G22D (p.Gly22Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G22D (p.Gly22Asp) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- gnomAD 11-2445163-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- ESM-1b 0.41
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 0.65
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available