N83Y (p.Asn83Tyr) variant of KCNQ2 (O43526)
N83Y (p.Asn83Tyr) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N83Y (p.Asn83Tyr) variant details
- p.Asn83Tyr
- TOPMed rs2082233813
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.80
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available