Y469C (p.Tyr469Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y469C (p.Tyr469Cys) 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 0.86 / 1. The record also includes published literature and structural context.
Y469C (p.Tyr469Cys) variant details
- p.Tyr469Cys
- rs267607074
- ClinGen CA379375121
- ClinVar RCV001281423
- ClinVar RCV005866918
- Pathogenic/Likely pathogenic
- Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type A; Niemann-Pick
- 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 (Sphingomyelin/cholesterol lipidosis; Niemann-Pick disease, type)
- EBI: Pathogenic (in NPDA)
- UniProt: Pathogenic (in NPDA)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)