E30K (p.Glu30Lys) variant of HCN4 (Q9Y3Q4)
E30K (p.Glu30Lys) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- rs786205802
- ClinGen CA301954
- ClinVar RCV001069920
- ClinVar RCV002372064
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.46
- MetaLR 0.83
- MetaSVM 0.73
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)