E30Q (p.Glu30Gln) variant of HCN4 (Q9Y3Q4)
E30Q (p.Glu30Gln) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; 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.
E30Q (p.Glu30Gln) variant details
- p.Glu30Gln
- rs786205802
- ClinGen CA393099072
- ClinVar RCV001228475
- ClinVar RCV004762007
- Uncertain significance
- not provided; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.43
- MetaLR 0.86
- MetaSVM 0.81
- CADD 22.90
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)