R12G (p.Arg12Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R12G (p.Arg12Gly) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R12G (p.Arg12Gly) variant details
- p.Arg12Gly
- gnomAD 11-2445132-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.91
- MetaSVM 0.55
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available