E66Q (p.Glu66Gln) variant of HCN4 (Q9Y3Q4)
E66Q (p.Glu66Gln) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- rs786205803
- ClinGen CA393098745
- ClinVar RCV001240953
- TOPMed rs786205803
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.24
- MetaLR 0.71
- MetaSVM 0.10
- CADD 12.20
- PolyPhen-2 0.15
- SIFT 0.31
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)