D253H (p.Asp253His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D253H (p.Asp253His) in SMPD1 (Sphingomyelin phosphodiesterase) 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 B; Niemann-Pick disease, type A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
D253H (p.Asp253His) variant details
- p.Asp253His
- rs398123479
- ClinGen CA266816
- ClinVar RCV000175626
- ClinVar RCV000414126
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.98
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. (PMID 20386867)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)