R12T (p.Arg12Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12T (p.Arg12Thr) 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.
R12T (p.Arg12Thr) variant details
- p.Arg12Thr
- gnomAD 11-2445133-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- ESM-1b 0.04
- AlphaMissense 0.15
- MetaLR 0.92
- MetaSVM 0.55
- CADD 17.20
- Population evidence available
- Structural context available
- Literature evidence available