L134F (p.Leu134Phe) variant of STAT2 (P52630)
L134F (p.Leu134Phe) in STAT2 (P52630) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection. The record also includes variant effect predictions and structural context.
L134F (p.Leu134Phe) variant details
- p.Leu134Phe
- rs1264238680
- ClinGen CA385263403
- cosmic curated COSV10644
- ClinVar RCV000537418
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- MutPred 0.41
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available