E78K (p.Glu78Lys) variant of HCN4 (Q9Y3Q4)
E78K (p.Glu78Lys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E78K (p.Glu78Lys) variant details
- p.Glu78Lys
- gnomAD rs1464572850
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.24
- MetaLR 0.74
- MetaSVM -0.05
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available