L595V (p.Leu595Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L595V (p.Leu595Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.54 / 1. The record also includes published literature and structural context.
L595V (p.Leu595Val) variant details
- p.Leu595Val
- rs2134024349
- ClinGen CA379377118
- ClinVar RCV001527435
- ClinVar RCV004526854
- Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.13
- MetaLR 0.67
- MetaSVM 0.46
- SIFT 0.03
- EVE 0.25
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)