G36R (p.Gly36Arg) variant of HCN4 (Q9Y3Q4)
G36R (p.Gly36Arg) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G36R (p.Gly36Arg) variant details
- p.Gly36Arg
- rs886039001
- ClinGen CA10587884
- ClinVar RCV000252541
- ClinVar RCV002519001
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.28
- MetaLR 0.73
- MetaSVM 0.23
- CADD 20.30
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)