L22M (p.Leu22Met) variant of PRKAA2 (P54646)
L22M (p.Leu22Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- gnomAD 1-56645451-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.42
- MetaLR 0.33
- MetaSVM -0.14
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available