A3E (p.Ala3Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3E (p.Ala3Glu) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 11-2445106-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.86
- MetaSVM 0.77
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available