A10P (p.Ala10Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A10P (p.Ala10Pro) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A10P (p.Ala10Pro) variant details
- p.Ala10Pro
- gnomAD 11-2445123-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available