L139P (p.Leu139Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L139P (p.Leu139Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
L139P (p.Leu139Pro) variant details
- p.Leu139Pro
- rs797044797
- ClinGen CA347285
- ClinVar RCV000192219
- ClinVar RCV001169955
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.93
- CADD 27.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Middle Eastern population (allele frequency 0.00018)
- 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)