Q16* (p.Gln16Ter) variant of BTK (Tyrosine-protein kinase BTK)
Q16* (p.Gln16Ter) 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 experimental measurements and structural context.
Q16* (p.Gln16Ter) variant details
- p.Gln16Ter
- rs1555980888
- ClinGen CA413939723
- ClinVar RCV000627328
- Ensembl rs1555980888
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.17