R230C (p.Arg230Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R230C (p.Arg230Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R230C (p.Arg230Cys) variant details
- p.Arg230Cys
- rs989639224
- ClinGen CA16041480
- NCI-TCGA Cosmic COSV5497
- cosmic curated COSV54970
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.93
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; not)
- EBI: Pathogenic (in NPDB and NPDA)
- UniProt: Pathogenic (in NPDB and NPDA)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype… (PMID 12369017)
- Cited in: Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. (PMID 19405096)