R12K (p.Arg12Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12K (p.Arg12Lys) 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.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- gnomAD 11-2445133-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.47
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available