T488A (p.Thr488Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
T488A (p.Thr488Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sphingomyelin/cholesterol lipidosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
T488A (p.Thr488Ala) variant details
- p.Thr488Ala
- rs1848064978
- ClinGen CA379375504
- ClinVar RCV003324398
- UniProt VAR 060918
- Likely pathogenic
- Sphingomyelin/cholesterol lipidosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.949
- AlphaMissense 0.86
- MetaLR 0.98
- MetaSVM 1.06
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Sphingomyelin/cholesterol lipidosis)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- 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: Acid Sphingomyelinase Deficiency. (PMID 20301544)