G18C (p.Gly18Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18C (p.Gly18Cys) 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 0.51 / 1. The record also includes population frequency data and structural context.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- Ensembl rs1565023020
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.47
- ESM-1b 0.42
- AlphaMissense 0.13
- MetaLR 0.95
- MetaSVM 0.76
- CADD 23.50
- Population evidence available
- Structural context available