G18D (p.Gly18Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18D (p.Gly18Asp) 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 0.54 / 1. The record also includes population frequency data and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- gnomAD rs1178180143
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.47
- ESM-1b 0.12
- AlphaMissense 0.15
- MetaLR 0.93
- MetaSVM 0.80
- CADD 22.30
- Population evidence available
- Structural context available