A764V (p.Ala764Val) variant of NPC1 (O15118)
A764V (p.Ala764Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
A764V (p.Ala764Val) variant details
- p.Ala764Val
- rs773765255
- ClinGen CA8913151
- ClinVar RCV001377828
- ExAC rs773765255
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- AlphaMissense 0.81
- MetaLR 0.89
- MetaSVM 0.95
- CADD 29.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)