L20R (p.Leu20Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
L20R (p.Leu20Arg) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- gnomAD 11-2445156-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.474
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available