K86* (p.Lys86Ter) variant of HCN4 (Q9Y3Q4)
K86* (p.Lys86Ter) in HCN4 (Q9Y3Q4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K86* (p.Lys86Ter) variant details
- p.Lys86Ter
- rs1472909888
- ClinGen CA393098576
- ClinVar RCV003022401
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.662
- CADD 36.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)