E87A (p.Glu87Ala) variant of GLA (Alpha-galactosidase A)
E87A (p.Glu87Ala) in GLA (Alpha-galactosidase A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E87A (p.Glu87Ala) variant details
- p.Glu87Ala
- TOPMed rs1182870909
- gnomAD rs1182870909
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.62
- AlphaMissense 0.15
- MetaLR 0.99
- MetaSVM 1.04
- CADD 22.40
- PolyPhen-2 0.21
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available