R56A (p.Arg56Ala) variant of GABRA1 (P14867)
R56A (p.Arg56Ala) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R56A (p.Arg56Ala) variant details
- p.Arg56Ala
- gnomAD 5-161854248-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 28.20
- Population evidence available
- Structural context available
- Literature evidence available