C74Y (p.Cys74Tyr) variant of NPC1 (O15118)
C74Y (p.Cys74Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C74Y (p.Cys74Tyr) variant details
- p.Cys74Tyr
- rs2059213166
- UniProt VAR 043173
- TOPMed rs2059213166
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.93
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)