L20V (p.Leu20Val) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20V (p.Leu20Val) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- gnomAD 11-2445156-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.93
- MetaSVM 0.73
- CADD 15.10
- Population evidence available
- Structural context available
- Literature evidence available