L72F (p.Leu72Phe) variant of HCN4 (Q9Y3Q4)
L72F (p.Leu72Phe) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- rs2043137832
- ClinGen CA393098694
- ClinVar RCV002047112
- 1000Genomes rs2043137832
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.30
- MetaLR 0.72
- MetaSVM 0.07
- CADD 16.90
- PolyPhen-2 0.11
- SIFT 0.53
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)