IMPACT

Chr 18

impact RWD domain protein

Also known as: RWDD5

Predicted to enable protein sequestering activity. Predicted to be involved in several processes, including GCN2-mediated signaling; cellular response to amino acid starvation; and regulation of gene expression. Predicted to act upstream of or within negative regulation of protein phosphorylation. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…
12
Active trials
324577
Pubs (1 yr)
P/LP submissions
P/LP missense
1.12
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — IMPACT
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.12LOEUF
pLI 0.000
Z-score 1.15
OE 0.72 (0.471.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.17Z-score
OE missense 0.96 (0.851.10)
165 obs / 171.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.471.12)
00.351.4
Missense OE?0.96 (0.851.10)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 14 / 19.5Missense obs/exp: 165 / 171.2Syn Z: -0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

IMPACT · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Cancer of Unknown Primary Site

The NorCUP Trial: Improving Prognosis and Personalized Treatment in Cancer of Unknown Primary (CUP)

NOT YET RECRUITING
NCT07366008Phase NAHaukeland University HospitalStarted 2026-01
Comprehensive molecular profiling
Bleeding Disorder

Early Genomic Testing for Inherited Bleeding Disorders

RECRUITING
NCT06736158Phase EARLY_PHASE1Queen's UniversityStarted 2025-05-31
Genetic testing for inherited bleeding disorders
Mucopolysaccharidosis Type II (MPS II)

CAMPSIITE™ RGX-121 Gene Therapy in Subjects With MPS II (Hunter Syndrome)

ACTIVE NOT RECRUITING
NCT03566043Phase PHASE2, PHASE3REGENXBIO Inc.Started 2018-09-27
RGX-121
SARS CoV 2 InfectionSARS CoV 2 Vaccination

COVID-19 Transmission and Morbidity in Malawi

RECRUITING
NCT05973084Boston UniversityStarted 2023-01-17
CMTCMT (Charcot Marie Tooth Disease)CMT - Charcot-Marie-Tooth Disease

A Multi-omic Approach to the Identification of Novel Biomarkers in Early Charcot-Marie-Tooth 1A Disease (CMT1A)

RECRUITING
NCT07476365University Medical Center GoettingenStarted 2025-03-24
Chronic Migraine

Evolution of the Cognitive Profile and Quality of Life of Adult Patients Suffering From Severe Migraines Under Preventive Treatment

NOT YET RECRUITING
NCT07691164Phase NAUniversity Hospital, Strasbourg, FranceStarted 2026-10-01
Cognitive assessment mapping
Adverse Childhood ExperiencesDevelopmental RiskPsychomotor Development Disorders

Growing Up in Multifactorial Risk Conditions

ENROLLING BY INVITATION
NCT07477899Phase NAIRCCS Eugenio MedeaStarted 2024-06-26
Home visiting programme
Prostatic Neoplasms

HSV-tk + Valacyclovir Therapy in Combination With Brachytherapy for Recurrent Prostate Cancer

RECRUITING
NCT01913106Phase PHASE1, PHASE2The Methodist Hospital Research InstituteStarted 2007-06
HSV-tk +Valacyclovir in Combination with Brachytherapy
Fabry Disease

Natural History in Fabry Disease With IVS4+919G>A Mutations

ACTIVE NOT RECRUITING
NCT07506083Chinese University of Hong KongStarted 2022-10-20
Haematologic Disease

Phase I Study of CTL Anti-DP Infusion Post-hematopoietic Stem Cell Transplantation

RECRUITING
NCT04180059Phase PHASE1Nantes University HospitalStarted 2020-02-09
CTL 19
Hemophilia A

Study to Evaluate the Efficacy and Safety of PF-07055480 / Giroctocogene Fitelparvovec Gene Therapy in Moderately Severe to Severe Hemophilia A Adults

ACTIVE NOT RECRUITING
NCT04370054Phase PHASE3PfizerStarted 2020-08-18
PF-07055480 (giroctocogene fitelparovec): Recombinant AAV2/6 Human Factor VIII Gene Therapy
Migraine

Ultrasound Guided Block of Stellate Ganglion Versus Greater Occipital Nerve in Resistant Migraine and Correlation to Calcitonin Gene Related Peptide

RECRUITING
NCT06662461Phase NAAin Shams UniversityStarted 2024-02-01
ultrasound guided Greater occipital nerve blockUltrasound guided Stellate ganglion block