K29E (p.Lys29Glu) variant of PRKAA2 (P54646)
K29E (p.Lys29Glu) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- gnomAD 1-56645472-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.43
- MetaLR 0.32
- MetaSVM -0.42
- CADD 29.90
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available