R58C (p.Arg58Cys) variant of KCNQ2 (O43526)
R58C (p.Arg58Cys) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- gnomAD rs1397119952
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.68
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available