T37I (p.Thr37Ile) variant of PLCG2 (P16885)
T37I (p.Thr37Ile) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cold autoinflammatory syndrome 3. The record also includes population frequency data, experimental measurements, and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- 1000Genomes rs147349332
- ESP rs147349332
- ExAC rs147349332
- TOPMed rs147349332
- Uncertain significance
- Familial cold autoinflammatory syndrome 3
- Missense
- ClinVar: Uncertain significance (Familial cold autoinflammatory syndrome 3)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.301