R82H (p.Arg82His) variant of HCN4 (Q9Y3Q4)
R82H (p.Arg82His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R82H (p.Arg82His) variant details
- p.Arg82His
- rs1170776732
- ClinGen CA393098608
- ClinVar RCV000619278
- TOPMed rs1170776732
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.29
- MetaLR 0.66
- MetaSVM 0.01
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available