C228R (p.Cys228Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
C228R (p.Cys228Arg) 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 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.
C228R (p.Cys228Arg) variant details
- p.Cys228Arg
- rs1564923612
- ClinGen CA379370790
- ClinVar RCV000778332
- ClinVar RCV003768424
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.93
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; Sphi)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Population evidence available
- Structural context available
- Cited in: Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. (PMID 23252888)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)