L163P (p.Leu163Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L163P (p.Leu163Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L163P (p.Leu163Pro) variant details
- p.Leu163Pro
- rs780134410
- ClinGen CA5852612
- ClinVar RCV000669477
- ClinVar RCV001868233
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.82
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in… (PMID 22818240)
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)