K3M (p.Lys3Met) variant of HCN4 (Q9Y3Q4)
K3M (p.Lys3Met) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K3M (p.Lys3Met) variant details
- p.Lys3Met
- rs1267513363
- ClinGen CA393099282
- ClinVar RCV003506251
- TOPMed rs1267513363
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.39
- MetaLR 0.84
- MetaSVM 0.49
- CADD 25.30
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)