C177Y (p.Cys177Tyr) variant of NPC1 (O15118)
C177Y (p.Cys177Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C177Y (p.Cys177Tyr) variant details
- p.Cys177Tyr
- rs80358252
- ClinGen CA340035
- ClinVar RCV000003108
- ClinVar RCV000623140
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.88
- CADD 26.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; not provided; Niemann-Pick disease, typ)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking… (PMID 11479732)
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)