L12F (p.Leu12Phe) variant of HCN4 (Q9Y3Q4)
L12F (p.Leu12Phe) 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.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs1247194443
- ClinGen CA393099230
- ClinVar RCV002685869
- TOPMed rs1247194443
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.51
- MetaLR 0.93
- MetaSVM 0.98
- CADD 25.00
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Uncertain significance (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)