K4E (p.Lys4Glu) variant of PRKAA2 (P54646)
K4E (p.Lys4Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K4E (p.Lys4Glu) variant details
- p.Lys4Glu
- gnomAD 1-56645397-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.09
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available