A283T (p.Ala283Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A283T (p.Ala283Thr) 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 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A283T (p.Ala283Thr) variant details
- p.Ala283Thr
- rs752148586
- ClinGen CA5852695
- NCI-TCGA Cosmic COSV5496
- cosmic curated COSV54969
- Pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.69
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and… (PMID 15241805)
- Cited in: Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type… (PMID 16010684)