C142R (p.Cys142Arg) variant of GLA (Alpha-galactosidase A)
C142R (p.Cys142Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C142R (p.Cys142Arg) variant details
- p.Cys142Arg
- rs886044845
- ClinGen CA10605183
- ClinVar RCV000301351
- ClinVar RCV005645066
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.94
- MetaLR 1.00
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. (PMID 10666480)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)