A31G (p.Ala31Gly) variant of GLA (Alpha-galactosidase A)
A31G (p.Ala31Gly) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
A31G (p.Ala31Gly) variant details
- p.Ala31Gly
- rs869312448
- ClinGen CA413937438
- ClinVar RCV001773184
- Ensembl rs869312448
- Uncertain significance
- Fabry disease; not provided
- 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: Uncertain significance (Fabry disease; not provided)
- EBI: Likely pathogenic (in FABRYD)
- UniProt: Likely pathogenic (in FABRYD)
- Structural context available