V37L (p.Val37Leu) variant of STAT2 (P52630)
V37L (p.Val37Leu) 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 population frequency data and structural context.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- rs144812882
- ClinGen CA385264111
- ClinVar RCV001986113
- NCI-TCGA TCGA novel
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available