R12S (p.Arg12Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12S (p.Arg12Ser) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 11-2445134-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.91
- MetaSVM 0.47
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available