R49Q (p.Arg49Gln) variant of HCN4 (Q9Y3Q4)
R49Q (p.Arg49Gln) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- Ensembl rs2043138348
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.25
- AlphaMissense 0.19
- MetaLR 0.79
- MetaSVM 0.51
- CADD 22.70
- PolyPhen-2 0.27
- Population evidence available
- Structural context available