N7K (p.Asn7Lys) variant of KCNQ2 (O43526)
N7K (p.Asn7Lys) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
N7K (p.Asn7Lys) variant details
- p.Asn7Lys
- TOPMed rs866451706
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.39
- CADD 20.50
- PolyPhen-2 0.22
- SIFT 0.12
- Population evidence available
- Structural context available