R49G (p.Arg49Gly) variant of HCN4 (Q9Y3Q4)
R49G (p.Arg49Gly) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R49G (p.Arg49Gly) variant details
- p.Arg49Gly
- rs1477109893
- ClinGen CA393098885
- ClinVar RCV004521404
- ClinVar RCV005100507
- Uncertain significance
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.53
- MetaLR 0.82
- MetaSVM 0.69
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)