V2M (p.Val2Met) variant of KCNQ2 (O43526)
V2M (p.Val2Met) in KCNQ2 (O43526) is a missense change. 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.
V2M (p.Val2Met) variant details
- p.Val2Met
- Ensembl rs587781010
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.39
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available