E89G (p.Glu89Gly) variant of GBA1 (P04062)
E89G (p.Glu89Gly) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E89G (p.Glu89Gly) variant details
- p.Glu89Gly
- gnomAD rs1230965695
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.65
- CADD 29.70
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available