A4D (p.Ala4Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4D (p.Ala4Asp) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD 11-2445109-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.92
- MetaSVM 0.66
- CADD 18.30
- Population evidence available
- Structural context available
- Literature evidence available