A3V (p.Ala3Val) variant of NPC1 (O15118)
A3V (p.Ala3Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- rs1321449179
- ClinGen CA402041553
- ClinVar RCV003056321
- TOPMed rs1321449179
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.35
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)