Q80K (p.Gln80Lys) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
Q80K (p.Gln80Lys) in CTLA4 (Cytotoxic T-lymphocyte protein 4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q80K (p.Gln80Lys) variant details
- p.Gln80Lys
- TOPMed rs1688714703
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available