W236C (p.Trp236Cys) variant of GLA (Alpha-galactosidase A)
W236C (p.Trp236Cys) 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 0.93 / 1. The record also includes published literature and structural context.
W236C (p.Trp236Cys) variant details
- p.Trp236Cys
- rs869312386
- NCI-TCGA Cosmic COSV5450
- ClinVar RCV005645555
- UniProt VAR 012406
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- AlphaMissense 0.95
- MetaLR 1.00
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other… (PMID 8875188)
- Cited in: The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the… (PMID 10090526)