L17R (p.Leu17Arg) variant of GABRA1 (P14867)
L17R (p.Leu17Arg) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- rs778424128
- gnomAD 5-161850797-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 15.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available