R6C (p.Arg6Cys) variant of KCNQ3 (O43525)
R6C (p.Arg6Cys) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- 1000Genomes rs535134109
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.0067)
- Structural context available