W162R (p.Trp162Arg) variant of GLA (Alpha-galactosidase A)
W162R (p.Trp162Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
W162R (p.Trp162Arg) variant details
- p.Trp162Arg
- rs28935196
- ClinGen CA021748
- ClinVar RCV000011475
- ClinVar RCV003137512
- Likely pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (PMID 7504405)
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)