A38V (p.Ala38Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38V (p.Ala38Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs71467507
- ClinGen CA5852493
- cosmic curated COSV54966
- ClinVar RCV000675386
- Uncertain significance
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0356
- REVEL 0.01
- CADD 0.38
- PolyPhen-2 0.01
- SIFT 0.54
- ClinVar: Uncertain significance (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00043)
- 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)