G11R (p.Gly11Arg) variant of GLA (Alpha-galactosidase A)
G11R (p.Gly11Arg) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from ClinVar 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 0.43 / 1. The record also includes population frequency data and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- TOPMed rs1367502468
- gnomAD rs1367502468
- Uncertain significance
- Fabry disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.43
- MetaLR 0.99
- MetaSVM 1.81
- CADD 15.50
- PolyPhen-2 0.37
- SIFT 0.21
- ClinVar: Uncertain significance (Fabry disease)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available