G16C (p.Gly16Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G16C (p.Gly16Cys) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- gnomAD 11-2445144-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.89
- MetaSVM 0.81
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available