Q18E (p.Gln18Glu) variant of HCN4 (Q9Y3Q4)
Q18E (p.Gln18Glu) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- rs2549080745
- ClinGen CA393099185
- ClinVar RCV002790251
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.29
- MetaLR 0.76
- MetaSVM -0.08
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)