L20M (p.Leu20Met) variant of KCNQ2 (O43526)
L20M (p.Leu20Met) in KCNQ2 (O43526) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L20M (p.Leu20Met) variant details
- p.Leu20Met
- TOPMed rs868492349
- gnomAD rs868492349
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available