E78K (p.Glu78Lys) variant of CHRNA4 (P43681)
E78K (p.Glu78Lys) in CHRNA4 (P43681) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- Ensembl rs2145402100
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.91
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available