R68G (p.Arg68Gly) variant of HCN4 (Q9Y3Q4)
R68G (p.Arg68Gly) 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; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- rs962306052
- ClinGen CA393098728
- ClinVar RCV001370576
- ClinVar RCV002420829
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.18
- MetaLR 0.74
- MetaSVM -0.02
- CADD 14.80
- PolyPhen-2 0.05
- SIFT 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)