E34K (p.Glu34Lys) variant of HCN4 (Q9Y3Q4)
E34K (p.Glu34Lys) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E34K (p.Glu34Lys) variant details
- p.Glu34Lys
- ExAC rs751823089
- gnomAD rs751823089
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.20
- MetaLR 0.72
- MetaSVM 0.13
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available