D503V (p.Asp503Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D503V (p.Asp503Val) 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 B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
D503V (p.Asp503Val) variant details
- p.Asp503Val
- rs1356136873
- ClinGen CA379375859
- ClinVar RCV003317026
- ClinVar RCV005860367
- Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- AlphaMissense 0.80
- MetaLR 0.49
- MetaSVM 0.17
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- 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)