R230H (p.Arg230His) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R230H (p.Arg230His) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acid sphingomyelinase deficiency; Niemann-Pick disease, type A; Niemann-Pick dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R230H (p.Arg230His) variant details
- p.Arg230His
- rs141387770
- ClinGen CA5852660
- cosmic curated COSV54968
- ClinVar RCV000383577
- Conflicting interpretations
- Acid sphingomyelinase deficiency; Niemann-Pick disease, type A; Niemann-Pick dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 24.30
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Acid sphingomyelinase deficiency; Niemann-Pick disease, type A;)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the 1KG:ASW population (allele frequency 0.01)
- Structural context available
- Cited in: Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of… (PMID 15877209)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)