V10I (p.Val10Ile) variant of KCNQ2 (O43526)
V10I (p.Val10Ile) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- Ensembl rs866220301
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.37
- CADD 21.10
- PolyPhen-2 0.16
- SIFT 0.10
- Population evidence available
- Structural context available