G11D (p.Gly11Asp) variant of GLA (Alpha-galactosidase A)
G11D (p.Gly11Asp) in GLA (Alpha-galactosidase A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G11D (p.Gly11Asp) variant details
- p.Gly11Asp
- ExAC rs782498765
- gnomAD rs782498765
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.47
- MetaLR 0.98
- MetaSVM 1.93
- CADD 7.48
- PolyPhen-2 0.17
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available