T49S (p.Thr49Ser) variant of PLCG2 (P16885)
T49S (p.Thr49Ser) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant. The record also includes structural context.
T49S (p.Thr49Ser) variant details
- p.Thr49Ser
- TOPMed rs1210167796
- Uncertain significance
- Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG2-associated ant
- Missense
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3; Autoinflammation-PLCG)
- UniProt: Uncertain significance
- Structural context available