L15F (p.Leu15Phe) variant of HCN4 (Q9Y3Q4)
L15F (p.Leu15Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs2043139568
- ClinGen CA393099208
- ClinVar RCV003615375
- TOPMed rs2043139568
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.49
- MetaLR 0.95
- MetaSVM 1.11
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)