Q42K (p.Gln42Lys) variant of STAT2 (P52630)
Q42K (p.Gln42Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Q42K (p.Gln42Lys) variant details
- p.Gln42Lys
- rs1258502384
- ClinGen CA385264075
- ClinVar RCV001220034
- TOPMed rs1258502384
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.28
- CADD 25.60
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available