G23D (p.Gly23Asp) variant of PRKAA2 (P54646)
G23D (p.Gly23Asp) 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.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- gnomAD 1-56645455-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.74
- MetaLR 0.50
- MetaSVM 0.22
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available