R12M (p.Arg12Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12M (p.Arg12Met) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R12M (p.Arg12Met) variant details
- p.Arg12Met
- gnomAD 11-2445133-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.43
- ESM-1b 0.92
- AlphaMissense 0.29
- MetaLR 0.94
- MetaSVM 0.67
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available