A31V (p.Ala31Val) variant of GLA (Alpha-galactosidase A)
A31V (p.Ala31Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fabry disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs869312448
- ClinGen CA352530
- ClinVar RCV001293631
- UniProt VAR 012363
- Pathogenic/Likely pathogenic
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- AlphaMissense 0.23
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.34
- ClinVar: Pathogenic/Likely pathogenic (Fabry disease)
- EBI: Pathogenic (in FABRYD)
- UniProt: Pathogenic (in FABRYD)
- Structural context available
- Cited in: Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (PMID 15712228)
- Cited in: Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. (PMID 9100224)