R17Q (p.Arg17Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R17Q (p.Arg17Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- rs764126465
- ClinGen CA5852459
- ClinVar RCV003071969
- ExAC rs764126465
- Uncertain significance
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.05
- CADD 15.30
- PolyPhen-2 0.17
- SIFT 0.39
- ClinVar: Uncertain significance (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- 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)