R74L (p.Arg74Leu) variant of KCNQ3 (O43525)
R74L (p.Arg74Leu) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- TOPMed rs1163071564
- gnomAD rs1163071564
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.44
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available