L304P (p.Leu304Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L304P (p.Leu304Pro) 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 A; Niemann-Pick disease, type B; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L304P (p.Leu304Pro) variant details
- p.Leu304Pro
- rs120074124
- UniProt VAR 005060
- TOPMed rs120074124
- gnomAD rs120074124
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.89
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Ashkenazi Jewish population (allele frequency 0.00086)
- Structural context available
- Cited in: Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi… (PMID 1391960)
- Cited in: Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of… (PMID 18815062)