VPS13A
Chr 9ARvacuolar protein sorting 13 homolog A
Also known as: BLTP5A, CHAC, CHOREIN
The protein controls steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane, and localizes to the mitochondrial outer membrane. Mutations cause chorea-acanthocytosis, an autosomal recessive movement disorder characterized by progressive chorea and acanthocytes on blood smear.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
500 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 | 24 | 0 | 3 | 0 | 27 |
Likely Pathogenic | 84 | 0 | 2 | 0 | 86 |
VUS | 1 | 205 | 20 | 16 | 242 |
Likely Benign | 0 | 4 | 46 | 40 | 90 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 3 | |||
| Total | 109 | 209 | 72 | 56 | 449 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
VPS13A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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