P56L (p.Pro56Leu) variant of HCN4 (Q9Y3Q4)
P56L (p.Pro56Leu) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs2549080630
- ClinGen CA393098823
- ClinVar RCV003070115
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.47
- MetaLR 0.90
- MetaSVM 0.87
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)