D1140E (p.Asp1140Glu) variant of PLCG2 (P16885)
D1140E (p.Asp1140Glu) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial cold autoinflammatory syndrome 3. The record also includes structural context.
D1140E (p.Asp1140Glu) variant details
- p.Asp1140Glu
- rs746749620
- ClinGen CA396908776
- ClinVar RCV002305070
- Likely pathogenic
- Familial cold autoinflammatory syndrome 3
- Missense
- ClinVar: Likely pathogenic (Familial cold autoinflammatory syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available