R447K (p.Arg447Lys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
R447K (p.Arg447Lys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.81 / 1. The record also includes published literature and structural context.
R447K (p.Arg447Lys) variant details
- p.Arg447Lys
- rs2134019797
- ClinGen CA379374608
- ClinVar RCV001527427
- ClinVar RCV003463044
- Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- AlphaMissense 0.81
- MetaLR 0.79
- MetaSVM 0.73
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)