G23C (p.Gly23Cys) variant of PRKAA2 (P54646)
G23C (p.Gly23Cys) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
G23C (p.Gly23Cys) variant details
- p.Gly23Cys
- gnomAD 1-56645454-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.79
- MetaLR 0.57
- MetaSVM 0.49
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available