L72H (p.Leu72His) variant of HCN4 (Q9Y3Q4)
L72H (p.Leu72His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L72H (p.Leu72His) variant details
- p.Leu72His
- rs2549080589
- ClinGen CA393098692
- ClinVar RCV002432581
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.20
- MetaLR 0.70
- MetaSVM -0.15
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00023)
- Structural context available