T89M (p.Thr89Met) variant of HCN4 (Q9Y3Q4)
T89M (p.Thr89Met) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
T89M (p.Thr89Met) variant details
- p.Thr89Met
- TOPMed rs1459039632
- gnomAD rs1459039632
- Uncertain significance
- Brugada syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- MetaLR 0.75
- MetaSVM -0.00
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome 8)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available