G480S (p.Gly480Ser) variant of HCN4 (Q9Y3Q4)
G480S (p.Gly480Ser) 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; Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G480S (p.Gly480Ser) variant details
- p.Gly480Ser
- rs121908411
- ClinGen CA393093935
- NCI-TCGA Cosmic COSV5608
- Pathogenic/Likely pathogenic
- HCN4-related disorder; Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.89
- CADD 25.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (HCN4-related disorder; Cardiovascular phenotype; Brugada syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)