A926V (p.Ala926Val) variant of NPC1 (O15118)
A926V (p.Ala926Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
A926V (p.Ala926Val) variant details
- p.Ala926Val
- rs730880963
- ClinGen CA297012
- NCI-TCGA Cosmic COSV9934
- ClinVar RCV001251128
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)