D266V (p.Asp266Val) variant of GLA (Alpha-galactosidase A)
D266V (p.Asp266Val) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D266V (p.Asp266Val) variant details
- p.Asp266Val
- rs28935487
- ClinGen CA022064
- ClinVar RCV000011481
- ClinVar RCV000733417
- Pathogenic
- not provided; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.97
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.93
- CADD 27.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Population evidence available
- 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)