L20M (p.Leu20Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20M (p.Leu20Met) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- gnomAD 11-2445156-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.38
- ESM-1b 0.13
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 0.80
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available