R70L (p.Arg70Leu) variant of KCNQ2 (O43526)
R70L (p.Arg70Leu) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- gnomAD rs1233641462
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.69
- CADD 24.40
- PolyPhen-2 0.41
- SIFT 0.00
- Population evidence available
- Structural context available