H512Y (p.His512Tyr) variant of NPC1 (O15118)
H512Y (p.His512Tyr) 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; Niemann-Pick disease, type C. 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.
H512Y (p.His512Tyr) variant details
- p.His512Tyr
- rs1168944129
- ClinGen CA401775311
- ClinVar RCV003605133
- ClinVar RCV005433434
- Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.87
- CADD 24.30
- PolyPhen-2 0.41
- SIFT 0.04
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Likely pathogenic (in NPC1)
- UniProt: Likely pathogenic (in NPC1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)