R20G (p.Arg20Gly) variant of KCNQ4 (P56696)
R20G (p.Arg20Gly) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- TOPMed rs1268949306
- gnomAD rs1268949306
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- MetaLR 0.79
- MetaSVM 0.49
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available