S707P (p.Ser707Pro) variant of PLCG2 (P16885)
S707P (p.Ser707Pro) in PLCG2 (P16885) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S707P (p.Ser707Pro) variant details
- p.Ser707Pro
- rs2143682648
- ClinGen CA396901938
- ClinVar RCV001650513
- Ensembl rs2143682648
- Likely pathogenic
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- AlphaMissense 0.95
- MetaLR 0.27
- MetaSVM -0.49
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.64
- ClinVar: Likely pathogenic (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Likely pathogenic (in APLAID)
- UniProt: Likely pathogenic (in APLAID)
- Structural context available