Y634C (p.Tyr634Cys) variant of NPC1 (O15118)
Y634C (p.Tyr634Cys) 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 C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
Y634C (p.Tyr634Cys) variant details
- p.Tyr634Cys
- rs202140203
- ClinGen CA297060739
- ClinVar RCV000669319
- ClinVar RCV002307585
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.95
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 5.3e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)