A13D (p.Ala13Asp) variant of GABRA1 (P14867)
A13D (p.Ala13Asp) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- gnomAD 5-161850657-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 19.40
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available