L227P (p.Leu227Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L227P (p.Leu227Pro) 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; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
L227P (p.Leu227Pro) variant details
- p.Leu227Pro
- rs764317969
- ClinGen CA5852659
- ClinVar RCV000668447
- ClinVar RCV001527418
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.95
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Population evidence available
- Structural context available
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)
- Cited in: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type… (PMID 16010684)