Y500H (p.Tyr500His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y500H (p.Tyr500His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
Y500H (p.Tyr500His) variant details
- p.Tyr500His
- ExAC rs771336819
- TOPMed rs771336819
- gnomAD rs771336819
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.90
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.00
- CADD 25.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available