P8A (p.Pro8Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P8A (p.Pro8Ala) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- gnomAD 11-2445114-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available