E29G (p.Glu29Gly) variant of HCN4 (Q9Y3Q4)
E29G (p.Glu29Gly) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- gnomAD rs991540673
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.27
- MetaLR 0.71
- MetaSVM 0.03
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Brugada syndrome 8)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available