K56R (p.Lys56Arg) variant of KCNQ2 (O43526)
K56R (p.Lys56Arg) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- TOPMed rs1343113197
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.34
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available