R14G (p.Arg14Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R14G (p.Arg14Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD 11-2445138-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.93
- MetaSVM 0.70
- CADD 21.00
- Population evidence available
- Structural context available
- Literature evidence available