A15V (p.Ala15Val) variant of GLA (Alpha-galactosidase A)
A15V (p.Ala15Val) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs869312304
- ClinGen CA413937757
- ClinVar RCV004015594
- TOPMed rs869312304
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.26
- AlphaMissense 0.23
- MetaLR 0.98
- MetaSVM 2.27
- CADD 8.47
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (Fabry disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 6.5e-05)
- 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)