PPP1R27

Chr 17

protein phosphatase 1 regulatory subunit 27

Also known as: DYSFIP1

NCBI Gene: 116729ENSG00000182676UniProt: Q86WC6

Enables phosphatase binding activity. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
21
Pathogenic / LP
51
ClinVar variants
0
Pubs (1 yr)
0.3
Missense Z
1.80
LOEUF
Clinical Summary— PPP1R27
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 28 VUS of 51 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.80LOEUF
pLI 0.000
Z-score -0.08
OE 1.03 (0.56–1.80)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.26Z-score
OE missense 0.93 (0.79–1.10)
100 obs / 107.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.03 (0.56–1.80)
0≤0.351.4
Missense OE0.93 (0.79–1.10)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 6 / 5.8Missense obs/exp: 100 / 107.6Syn Z: -0.72
GOF
DN
0.6163th %ile
GOF
0.6344th %ile
LOF
0.3452th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

51 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic18
Likely Pathogenic3
VUS28
Likely Benign2
18
Pathogenic
3
Likely Pathogenic
28
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
18
0
18
Likely Pathogenic
0
0
3
0
3
VUS
0
24
4
0
28
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total02625051

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

PPP1R27 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients