G80V (p.Gly80Val) variant of GLA (Alpha-galactosidase A)
G80V (p.Gly80Val) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in FABRYD. The record also includes structural context.
G80V (p.Gly80Val) variant details
- p.Gly80Val
- NCI-TCGA Cosmic COSV5450
- Uncertain significance
- in FABRYD
- Missense
- EBI: uncertain significance (in FABRYD)
- UniProt: Uncertain significance (in FABRYD)
- Structural context available