E29K (p.Glu29Lys) variant of HCN4 (Q9Y3Q4)
E29K (p.Glu29Lys) 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 0.45 / 1. The record also includes population frequency data and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- Ensembl rs868043327
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.33
- MetaLR 0.75
- MetaSVM 0.18
- CADD 21.50
- PolyPhen-2 0.08
- SIFT 0.05
- ClinVar: Uncertain significance (Brugada syndrome 8)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3e-05)
- Structural context available