P331L (p.Pro331Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P331L (p.Pro331Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P331L (p.Pro331Leu) variant details
- p.Pro331Leu
- TOPMed rs1162100791
- gnomAD rs1162100791
- Conflicting interpretations
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.73
- CADD 25.80
- PolyPhen-2 0.50
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- UniProt: Conflicting interpretations
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available