K29R (p.Lys29Arg) variant of PRKAA2 (P54646)
K29R (p.Lys29Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD 1-56645473-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.31
- MetaLR 0.21
- MetaSVM -0.66
- CADD 25.00
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available