A454V (p.Ala454Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A454V (p.Ala454Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Niemann-Pick disease, type B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A454V (p.Ala454Val) variant details
- p.Ala454Val
- rs1402734026
- ClinGen CA379374842
- ClinVar RCV000669613
- ClinVar RCV002532089
- Conflicting interpretations
- not provided; Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.71
- CADD 23.60
- PolyPhen-2 0.84
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Niemann-Pick disease, type B; Niemann-Pick disease)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)