L845S (p.Leu845Ser) variant of PLCG2 (P16885)
L845S (p.Leu845Ser) 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 0.49 / 1. The record also includes structural context.
L845S (p.Leu845Ser) variant details
- p.Leu845Ser
- rs2143705605
- ClinGen CA396902958
- ClinVar RCV002260534
- Ensembl rs2143705605
- Likely pathogenic
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.99
- MetaLR 0.45
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.50
- ClinVar: Likely pathogenic (Autoinflammation-PLCG2-associated antibody deficiency-immune dys)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available