Y481C (p.Tyr481Cys) variant of HCN4 (Q9Y3Q4)
Y481C (p.Tyr481Cys) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Y481C (p.Tyr481Cys) variant details
- p.Tyr481Cys
- rs2151217044
- ClinGen CA393093919
- ClinVar RCV002020237
- Ensembl rs2151217044
- Likely pathogenic
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.08
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Brugada syndrome 8)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)