Y354C (p.Tyr354Cys) variant of HCN4 (Q9Y3Q4)
Y354C (p.Tyr354Cys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of HCN4-related disorder; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
Y354C (p.Tyr354Cys) variant details
- p.Tyr354Cys
- rs2151221183
- ClinGen CA393094933
- ClinVar RCV001894498
- ClinVar RCV003387535
- Pathogenic/Likely pathogenic
- HCN4-related disorder; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (HCN4-related disorder; Brugada syndrome 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)