G26D (p.Gly26Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G26D (p.Gly26Asp) 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 and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- gnomAD rs1273972050
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.95
- MetaSVM 0.98
- CADD 22.50
- Population evidence available
- Structural context available