R51W (p.Arg51Trp) variant of HCN4 (Q9Y3Q4)
R51W (p.Arg51Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs1555479061
- ClinGen CA393098869
- ClinVar RCV000647234
- Ensembl rs1555479061
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.44
- MetaLR 0.83
- MetaSVM 0.88
- CADD 25.60
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)