S707Y (p.Ser707Tyr) variant of PLCG2 (P16885)
S707Y (p.Ser707Tyr) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
S707Y (p.Ser707Tyr) variant details
- p.Ser707Tyr
- rs397514562
- ClinGen CA130461
- ClinVar RCV000032898
- UniProt VAR 069211
- Pathogenic
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.88
- MetaLR 0.38
- MetaSVM -0.23
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.61
- ClinVar: Pathogenic (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Pathogenic (in APLAID)
- UniProt: Pathogenic (in APLAID)
- Structural context available
- Cited in: A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory… (PMID 23000145)