A4E (p.Ala4Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4E (p.Ala4Glu) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A4E (p.Ala4Glu) variant details
- p.Ala4Glu
- rs1846001303
- gnomAD 11-2444696-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 5.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available