Y469S (p.Tyr469Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y469S (p.Tyr469Ser) 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 B; Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y469S (p.Tyr469Ser) variant details
- p.Tyr469Ser
- rs267607074
- ClinGen CA252530
- ClinVar RCV000003131
- ClinVar RCV001379382
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.74
- MetaLR 0.91
- MetaSVM 1.04
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- 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)