K86R (p.Lys86Arg) variant of HCN4 (Q9Y3Q4)
K86R (p.Lys86Arg) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
K86R (p.Lys86Arg) variant details
- p.Lys86Arg
- rs549753996
- ClinGen CA272700475
- ClinVar RCV003384152
- ClinVar RCV003614233
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- MetaLR 0.76
- MetaSVM 0.43
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)