P7L (p.Pro7Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7L (p.Pro7Leu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD 11-2445118-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.96
- MetaSVM 0.89
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available