G22S (p.Gly22Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22S (p.Gly22Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
G22S (p.Gly22Ser) variant details
- p.Gly22Ser
- gnomAD 11-2445162-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.90
- MetaSVM 0.68
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available