K12M (p.Lys12Met) variant of PRKAA2 (P54646)
K12M (p.Lys12Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K12M (p.Lys12Met) variant details
- p.Lys12Met
- gnomAD 1-56645422-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.53
- MetaLR 0.34
- MetaSVM -0.46
- CADD 28.10
- PolyPhen-2 0.79
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available