Q78* (p.Gln78Ter) variant of BTK (Tyrosine-protein kinase BTK)
Q78* (p.Gln78Ter) in BTK (Tyrosine-protein kinase BTK) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q78* (p.Gln78Ter) variant details
- p.Gln78Ter
- rs1603019535
- ClinGen CA413938666
- ClinVar RCV000814965
- Ensembl rs1603019535
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available