G9R (p.Gly9Arg) variant of PRKAA2 (P54646)
G9R (p.Gly9Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
G9R (p.Gly9Arg) variant details
- p.Gly9Arg
- gnomAD 1-56645412-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.34
- MetaLR 0.21
- MetaSVM -0.78
- CADD 25.10
- PolyPhen-2 0.61
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available