R3H (p.Arg3His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R3H (p.Arg3His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of SMPD1-related disorder; Niemann-Pick disease, type A; Niemann-Pick disease, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- rs199836262
- ClinGen CA5852452
- cosmic curated COSV54968
- ClinVar RCV000397745
- Conflicting interpretations
- SMPD1-related disorder; Niemann-Pick disease, type A; Niemann-Pick disease, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.02
- CADD 9.65
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (SMPD1-related disorder; Niemann-Pick disease, type A; Niemann-Pi)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GBR population (allele frequency 0.011)
- 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)