R74C (p.Arg74Cys) variant of KCNQ3 (O43525)
R74C (p.Arg74Cys) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R74C (p.Arg74Cys) variant details
- p.Arg74Cys
- cosmic curated COSV66464
- ExAC rs776548429
- gnomAD rs776548429
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.52
- CADD 26.40
- PolyPhen-2 0.25
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available