A2D (p.Ala2Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2D (p.Ala2Asp) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 11-2445103-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.80
- MetaSVM 0.26
- CADD 16.70
- Population evidence available
- Structural context available
- Literature evidence available