E34D (p.Glu34Asp) variant of GABRA1 (P14867)
E34D (p.Glu34Asp) in GABRA1 (P14867) 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, published literature, and structural context.
E34D (p.Glu34Asp) variant details
- p.Glu34Asp
- gnomAD 5-161850667-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.80
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available