E34K (p.Glu34Lys) variant of PRKAA2 (P54646)
E34K (p.Glu34Lys) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- gnomAD 1-56674386-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available