I48M (p.Ile48Met) variant of HCN4 (Q9Y3Q4)
I48M (p.Ile48Met) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- rs776352142
- ClinGen CA7649499
- ClinVar RCV003443648
- ClinVar RCV005100082
- Uncertain significance
- Brugada syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.36
- MetaLR 0.85
- MetaSVM 0.65
- CADD 22.60
- PolyPhen-2 0.37
- SIFT 0.01
- ClinVar: Uncertain significance (Brugada syndrome 8; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)