RAB27A
Chr 15ARRAB27A, member RAS oncogene family
Also known as: GS2, HsT18676, RAB27, RAM
RAB27A encodes a small GTPase that regulates vesicle trafficking in the late endocytic pathway and controls cytotoxic granule exocytosis in immune cells. Mutations cause Griscelli syndrome type 2, an autosomal recessive disorder characterized by partial albinism and severe immunodeficiency due to impaired lymphocyte function. The gene shows low constraint against loss-of-function variants (high LOEUF score), consistent with the recessive inheritance pattern where both alleles must be affected to cause disease.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
377 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 20 | 7 | 36 | 0 | 63 |
Likely Pathogenic | 7 | 9 | 4 | 0 | 20 |
VUS | 3 | 78 | 67 | 2 | 150 |
Likely Benign | 0 | 2 | 48 | 44 | 94 |
Benign | 0 | 0 | 29 | 1 | 30 |
Conflicting | — | 15 | |||
| Total | 30 | 96 | 184 | 47 | 372 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RAB27A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools