A23E (p.Ala23Glu) variant of HCN4 (Q9Y3Q4)
A23E (p.Ala23Glu) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A23E (p.Ala23Glu) variant details
- p.Ala23Glu
- ExAC rs781573072
- gnomAD rs781573072
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.47
- MetaLR 0.87
- MetaSVM 0.85
- CADD 23.20
- PolyPhen-2 0.03
- SIFT 0.00
- Population evidence available
- Structural context available