K12E (p.Lys12Glu) variant of PRKAA2 (P54646)
K12E (p.Lys12Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- gnomAD 1-56645421-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.45
- MetaLR 0.23
- MetaSVM -0.61
- CADD 25.40
- PolyPhen-2 0.38
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available