Q18P (p.Gln18Pro) variant of HCN4 (Q9Y3Q4)
Q18P (p.Gln18Pro) 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 record also includes published literature and structural context.
Q18P (p.Gln18Pro) variant details
- p.Gln18Pro
- rs2549080743
- ClinGen CA393099182
- ClinVar RCV004118409
- ClinVar RCV005059281
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)