H143N (p.His143Asn) variant of STAT2 (P52630)
H143N (p.His143Asn) 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.
H143N (p.His143Asn) variant details
- p.His143Asn
- rs2136087270
- ClinGen CA385263345
- ClinVar RCV002046686
- Ensembl rs2136087270
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- MutPred 0.43
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available