K31E (p.Lys31Glu) variant of PRKAA2 (P54646)
K31E (p.Lys31Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- gnomAD 1-56645478-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.38
- MetaLR 0.11
- MetaSVM -0.96
- CADD 32.00
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available