D280A (p.Asp280Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D280A (p.Asp280Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D280A (p.Asp280Ala) variant details
- p.Asp280Ala
- rs1847935299
- ClinGen CA379371121
- ClinVar RCV001390955
- ClinVar RCV001831407
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.99
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)