R74S (p.Arg74Ser) variant of KCNQ3 (O43525)
R74S (p.Arg74Ser) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R74S (p.Arg74Ser) variant details
- p.Arg74Ser
- ExAC rs776548429
- gnomAD rs776548429
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.46
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available