G244R (p.Gly244Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G244R (p.Gly244Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G244R (p.Gly244Arg) variant details
- p.Gly244Arg
- rs120074122
- ClinGen CA252517
- cosmic curated COSV10019
- NCI-TCGA Cosmic COSV5496
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.73
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B; not)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B… (PMID 1301192)
- Cited in: Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B… (PMID 1618760)