K6R (p.Lys6Arg) variant of PRKAA2 (P54646)
K6R (p.Lys6Arg) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K6R (p.Lys6Arg) variant details
- p.Lys6Arg
- gnomAD 1-56645404-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available