D266A (p.Asp266Ala) variant of GLA (Alpha-galactosidase A)
D266A (p.Asp266Ala) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; 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.
D266A (p.Asp266Ala) variant details
- p.Asp266Ala
- rs28935487
- ClinGen CA10577207
- ClinVar RCV000216195
- ClinVar RCV005237731
- Conflicting interpretations
- not specified; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.966
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Conflicting classifications of pathogenicity (not specified; Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. (PMID 12735292)
- Cited in: Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. (PMID 16980809)