L105P (p.Leu105Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L105P (p.Leu105Pro) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L105P (p.Leu105Pro) variant details
- p.Leu105Pro
- rs751269562
- ClinGen CA5852548
- ClinVar RCV000672040
- ClinVar RCV001250173
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDA and NPDB)
- UniProt: Pathogenic (in NPDA and NPDB)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private… (PMID 15221801)
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)