G23S (p.Gly23Ser) variant of PRKAA2 (P54646)
G23S (p.Gly23Ser) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- gnomAD 1-56645454-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.72
- MetaLR 0.53
- MetaSVM 0.34
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available