C202W (p.Cys202Trp) variant of GLA (Alpha-galactosidase A)
C202W (p.Cys202Trp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C202W (p.Cys202Trp) variant details
- p.Cys202Trp
- rs104894838
- ClinGen CA021821
- ClinVar RCV000011476
- UniProt VAR 000462
- Pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.97
- AlphaMissense 0.98
- MetaLR 1.00
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of… (PMID 10208848)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)