D2E (p.Asp2Glu) variant of HCN4 (Q9Y3Q4)
D2E (p.Asp2Glu) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D2E (p.Asp2Glu) variant details
- p.Asp2Glu
- rs1230881569
- ClinGen CA393099289
- ClinVar RCV001881873
- ClinVar RCV002370458
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.38
- MetaLR 0.82
- MetaSVM 0.91
- CADD 20.30
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)