R45H (p.Arg45His) variant of HCN4 (Q9Y3Q4)
R45H (p.Arg45His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
R45H (p.Arg45His) variant details
- p.Arg45His
- 1000Genomes rs1416460262
- TOPMed rs1416460262
- gnomAD rs1416460262
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.46
- MetaLR 0.91
- MetaSVM 0.96
- CADD 25.90
- PolyPhen-2 0.80
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available