L22M (p.Leu22Met) variant of PLCG2 (P16885)
L22M (p.Leu22Met) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- rs1423487027
- ClinGen CA396895393
- ClinVar RCV001647347
- TOPMed rs1423487027
- Uncertain significance
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- AlphaMissense 0.24
- MetaLR 0.45
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.68
- ClinVar: Uncertain significance (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PLCG2 SH3 domain domainome 1.0: score -0.856