E28K (p.Glu28Lys) variant of HCN4 (Q9Y3Q4)
E28K (p.Glu28Lys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HCN4-related disorder; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- rs867068803
- ClinGen CA393099092
- ClinVar RCV000532717
- ClinVar RCV004527654
- Uncertain significance
- HCN4-related disorder; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.49
- MetaLR 0.82
- MetaSVM 0.82
- CADD 23.40
- PolyPhen-2 0.24
- SIFT 0.00
- ClinVar: Uncertain significance (HCN4-related disorder; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)