D25V (p.Asp25Val) variant of GLA (Alpha-galactosidase A)
D25V (p.Asp25Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
D25V (p.Asp25Val) variant details
- p.Asp25Val
- rs1336588430
- ClinGen CA413937563
- ClinVar RCV002391606
- ClinVar RCV005097117
- Uncertain significance
- Cardiovascular phenotype; Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.09
- MetaLR 0.99
- MetaSVM 2.14
- PolyPhen-2 0.00
- SIFT 0.63
- MutPred 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype; Fabry disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)