L558P (p.Leu558Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L558P (p.Leu558Pro) 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 Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
L558P (p.Leu558Pro) variant details
- p.Leu558Pro
- rs875989836
- ClinGen CA10576033
- ClinVar RCV000211547
- ClinVar RCV003765358
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- AlphaMissense 0.98
- MetaLR 0.47
- MetaSVM 0.08
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic
- UniProt: 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)