S57F (p.Ser57Phe) variant of HCN4 (Q9Y3Q4)
S57F (p.Ser57Phe) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Brugada syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- rs1567802231
- ClinGen CA393098816
- ClinVar RCV002398866
- ClinVar RCV006559272
- Uncertain significance
- Cardiovascular phenotype; Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.30
- MetaLR 0.80
- MetaSVM 0.30
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)