G91R (p.Gly91Arg) variant of HCN4 (Q9Y3Q4)
G91R (p.Gly91Arg) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G91R (p.Gly91Arg) variant details
- p.Gly91Arg
- rs746252218
- ClinGen CA393098529
- ClinVar RCV002023050
- ClinVar RCV003303644
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.59
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)