Y53C (p.Tyr53Cys) variant of GABRA1 (P14867)
Y53C (p.Tyr53Cys) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Y53C (p.Tyr53Cys) variant details
- p.Tyr53Cys
- gnomAD 5-161854241-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.95
- MetaLR 0.89
- MetaSVM 1.02
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available