Y53L (p.Tyr53Leu) variant of GABRA1 (P14867)
Y53L (p.Tyr53Leu) in GABRA1 (P14867) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Y53L (p.Tyr53Leu) variant details
- p.Tyr53Leu
- gnomAD 5-161854239-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 29.00
- Population evidence available
- Structural context available
- Literature evidence available