K4R (p.Lys4Arg) variant of PRKAA2 (P54646)
K4R (p.Lys4Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- gnomAD 1-56645398-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available