P477L (p.Pro477Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P477L (p.Pro477Leu) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P477L (p.Pro477Leu) variant details
- p.Pro477Leu
- rs753508874
- ClinGen CA274348
- ClinVar RCV000169478
- ClinVar RCV000521803
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Most common in the Latino/Admixed American population (allele frequency 6.7e-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)