A13V (p.Ala13Val) variant of GLA (Alpha-galactosidase A)
A13V (p.Ala13Val) 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 Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs869312297
- NCI-TCGA Cosmic COSV5451
- ClinVar RCV005645692
- Ensembl rs869312297
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.07
- MetaLR 0.98
- MetaSVM 2.60
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.39
- ClinVar: Uncertain significance (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)