R50C (p.Arg50Cys) variant of KCNQ2 (O43526)
R50C (p.Arg50Cys) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- gnomAD rs1382487817
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.78
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available