G27D (p.Gly27Asp) variant of GABRA1 (P14867)
G27D (p.Gly27Asp) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- gnomAD 5-161854161-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 29.70
- Population evidence available
- Structural context available
- Literature evidence available