E76D (p.Glu76Asp) variant of KCNQ3 (O43525)
E76D (p.Glu76Asp) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- Ensembl rs1822518646
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.32
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available