W342C (p.Trp342Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W342C (p.Trp342Cys) 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; Sphingomyelin/choles. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
W342C (p.Trp342Cys) variant details
- p.Trp342Cys
- rs281860668
- ClinGen CA379371710
- ClinVar RCV000665335
- ClinVar RCV003767946
- Likely pathogenic
- Niemann-Pick disease, type B; Niemann-Pick disease, type A; Sphingomyelin/choles
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type B; Niemann-Pick disease, type A; Sphi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)