A38E (p.Ala38Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A38E (p.Ala38Glu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- rs71467507
- ClinGen CA5852492
- ClinVar RCV000594768
- ClinVar RCV002531016
- Uncertain significance
- not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.0818
- REVEL 0.08
- CADD 0.87
- PolyPhen-2 0.36
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Niemann-Pick disease, type A; Niemann-Pick disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00029)
- 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)