D51V (p.Asp51Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D51V (p.Asp51Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- rs748589919
- ClinGen CA5852508
- ClinVar RCV001579137
- ClinVar RCV001579138
- Conflicting interpretations
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.16
- CADD 23.10
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)