L46W (p.Leu46Trp) variant of GABRA1 (P14867)
L46W (p.Leu46Trp) 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.
L46W (p.Leu46Trp) variant details
- p.Leu46Trp
- gnomAD 5-161854216-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available