C63Y (p.Cys63Tyr) variant of NPC1 (O15118)
C63Y (p.Cys63Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C63Y (p.Cys63Tyr) variant details
- p.Cys63Tyr
- rs2145544950
- ClinGen CA401786634
- ClinVar RCV001990349
- Ensembl rs2145544950
- Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)