R476Q (p.Arg476Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R476Q (p.Arg476Gln) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R476Q (p.Arg476Gln) variant details
- p.Arg476Gln
- rs763566905
- ClinGen CA5852891
- ClinVar RCV000436575
- ClinVar RCV000984224
- Conflicting interpretations
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.80
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. (PMID 26499107)
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)