G22V (p.Gly22Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22V (p.Gly22Val) 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 0.44 / 1. The record also includes population frequency data and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- Ensembl rs1846015097
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.89
- MetaSVM 0.75
- CADD 18.90
- Population evidence available
- Structural context available