G18R (p.Gly18Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18R (p.Gly18Arg) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G18R (p.Gly18Arg) variant details
- p.Gly18Arg
- gnomAD 11-2445150-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.94
- MetaSVM 0.73
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available