A4P (p.Ala4Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4P (p.Ala4Pro) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 11-2445108-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.92
- MetaSVM 0.70
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available