Y634F (p.Tyr634Phe) variant of NPC1 (O15118)
Y634F (p.Tyr634Phe) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Y634F (p.Tyr634Phe) variant details
- p.Tyr634Phe
- rs202140203
- ClinGen CA401772234
- ClinVar RCV001318487
- ClinVar RCV005911027
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.77
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6.1e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)