E66K (p.Glu66Lys) variant of HCN4 (Q9Y3Q4)
E66K (p.Glu66Lys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E66K (p.Glu66Lys) variant details
- p.Glu66Lys
- rs786205803
- ClinGen CA301956
- ClinVar RCV000170937
- ClinVar RCV000808910
- Uncertain significance
- not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.21
- MetaLR 0.73
- MetaSVM 0.16
- CADD 10.40
- PolyPhen-2 0.08
- SIFT 0.94
- ClinVar: Uncertain significance (not provided; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)