G52A (p.Gly52Ala) variant of GABRA1 (P14867)
G52A (p.Gly52Ala) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G52A (p.Gly52Ala) variant details
- p.Gly52Ala
- gnomAD 5-161854238-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.80
- MetaLR 0.71
- MetaSVM 0.50
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available