H423R (p.His423Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
H423R (p.His423Arg) 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 Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
H423R (p.His423Arg) variant details
- p.His423Arg
- rs767492080
- ClinGen CA5852844
- ClinVar RCV003037365
- ClinVar RCV003331417
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.95
- CADD 24.50
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. (PMID 19405096)
- Cited in: Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. (PMID 12556236)