G480V (p.Gly480Val) variant of HCN4 (Q9Y3Q4)
G480V (p.Gly480Val) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G480V (p.Gly480Val) variant details
- p.Gly480Val
- rs1060500103
- ClinGen CA16614737
- ClinVar RCV000471436
- gnomAD rs1060500103
- Likely pathogenic
- Brugada syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.96
- MetaLR 1.00
- MetaSVM 0.89
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Brugada syndrome 8; Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)