A23D (p.Ala23Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A23D (p.Ala23Asp) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A23D (p.Ala23Asp) variant details
- p.Ala23Asp
- gnomAD 11-2445166-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.87
- MetaSVM 0.80
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available