L17P (p.Leu17Pro) variant of GABRA1 (P14867)
L17P (p.Leu17Pro) 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.
L17P (p.Leu17Pro) variant details
- p.Leu17Pro
- gnomAD 5-161850797-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 15.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available