G18V (p.Gly18Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G18V (p.Gly18Val) 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, published literature, and structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- gnomAD 11-2445151-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.94
- MetaSVM 0.82
- CADD 23.30
- Population evidence available
- Structural context available
- Literature evidence available