G11S (p.Gly11Ser) variant of GLA (Alpha-galactosidase A)
G11S (p.Gly11Ser) in GLA (Alpha-galactosidase A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- TOPMed rs1367502468
- gnomAD rs1367502468
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- MetaLR 0.98
- MetaSVM 2.20
- CADD 9.18
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available