VWA8
Chr 13ADvon Willebrand factor A domain containing 8
Also known as: KIAA0564, P7BP2, RP97
The VWA8 protein exhibits ATPase activity and localizes to mitochondria and peroxisomes. Mutations cause retinitis pigmentosa 97, which follows autosomal dominant inheritance. The gene shows extremely high constraint against loss-of-function variants (pLI essentially 1.0), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
295 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 | 1 | 0 | 49 | 0 | 50 |
Likely Pathogenic | 1 | 1 | 1 | 0 | 3 |
VUS | 2 | 169 | 6 | 0 | 177 |
Likely Benign | 0 | 6 | 2 | 5 | 13 |
Benign | 0 | 3 | 2 | 3 | 8 |
Conflicting | — | 1 | |||
| Total | 4 | 179 | 60 | 8 | 252 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
VWA8 · 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