G52C (p.Gly52Cys) variant of GABRA1 (P14867)
G52C (p.Gly52Cys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G52C (p.Gly52Cys) variant details
- p.Gly52Cys
- gnomAD 5-161854237-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.83
- MetaLR 0.74
- MetaSVM 0.61
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available