ABRACL

Chr 6

ABRA C-terminal like

Also known as: C6orf115, Costars, HSPC280, PRO2013

Predicted to be involved in regulation of actin filament-based process. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
DN
Mechanism· predicted
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?
1.37LOEUF
pLI 0.242
Z-score 1.17
OE 0.30 (0.111.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.41Z-score
OE missense 0.83 (0.641.09)
38 obs / 45.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.30 (0.111.37)
00.351.4
Missense OE?0.83 (0.641.09)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 1 / 3.3Missense obs/exp: 38 / 45.7Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ABRACL · 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

No active trials found for this gene.

Search ClinicalTrials.gov →