Y1019C (p.Tyr1019Cys) variant of NPC1 (O15118)
Y1019C (p.Tyr1019Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y1019C (p.Tyr1019Cys) variant details
- p.Tyr1019Cys
- rs781261962
- ClinGen CA8912862
- ClinVar RCV000412438
- ExAC rs781261962
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.94
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)