E34G (p.Glu34Gly) variant of GABRA1 (P14867)
E34G (p.Glu34Gly) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E34G (p.Glu34Gly) variant details
- p.Glu34Gly
- gnomAD 5-161850666-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- CADD 22.80
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available