P8L (p.Pro8Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P8L (p.Pro8Leu) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- gnomAD 11-2445121-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.92
- MetaSVM 1.01
- CADD 22.50
- Population evidence available
- Structural context available
- Literature evidence available