R51Q (p.Arg51Gln) variant of HCN4 (Q9Y3Q4)
R51Q (p.Arg51Gln) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs1425211418
- ClinGen CA393098867
- ClinVar RCV001035563
- ClinVar RCV002400210
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.31
- MetaLR 0.67
- MetaSVM 0.21
- CADD 23.50
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)