K6M (p.Lys6Met) variant of PRKAA2 (P54646)
K6M (p.Lys6Met) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K6M (p.Lys6Met) variant details
- p.Lys6Met
- gnomAD 1-56645404-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- CADD 29.20
- PolyPhen-2 0.57
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available