P137A (p.Pro137Ala) variant of STAT2 (P52630)
P137A (p.Pro137Ala) 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.
P137A (p.Pro137Ala) variant details
- p.Pro137Ala
- rs2136087361
- ClinGen CA385263385
- ClinVar RCV001924295
- Ensembl rs2136087361
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- MutPred 0.38
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available