A23G (p.Ala23Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23G (p.Ala23Gly) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A23G (p.Ala23Gly) variant details
- p.Ala23Gly
- gnomAD 11-2445166-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.89
- MetaSVM 0.85
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available