Y481H (p.Tyr481His) variant of HCN4 (Q9Y3Q4)
Y481H (p.Tyr481His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Brugada syndrome 8; Sick sinus syndrome 2, autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y481H (p.Tyr481His) variant details
- p.Tyr481His
- rs1057519275
- ClinGen CA16043943
- ClinVar RCV000415538
- ClinVar RCV000693647
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Brugada syndrome 8; Sick sinus syndrome 2, autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Brugada syndrome 8; Sick sinus syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. (PMID 25145517)
- Cited in: Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. (PMID 27173043)