E28G (p.Glu28Gly) variant of HCN4 (Q9Y3Q4)
E28G (p.Glu28Gly) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- rs989762782
- ClinGen CA272700578
- ClinVar RCV003504992
- ClinVar RCV005353207
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.39
- MetaLR 0.82
- MetaSVM 0.82
- CADD 24.10
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)