K3R (p.Lys3Arg) variant of HCN4 (Q9Y3Q4)
K3R (p.Lys3Arg) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- rs1267513363
- ClinGen CA393099283
- ClinVar RCV001882222
- TOPMed rs1267513363
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- MetaLR 0.66
- MetaSVM -0.10
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.85
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)