Q84K (p.Gln84Lys) variant of STAT2 (P52630)
Q84K (p.Gln84Lys) 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 0.22 / 1. The record also includes population frequency data and structural context.
Q84K (p.Gln84Lys) variant details
- p.Gln84Lys
- rs150901100
- ClinGen CA6630924
- ClinVar RCV000788163
- ClinVar RCV000802910
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.15
- CADD 13.50
- PolyPhen-2 0.20
- SIFT 0.14
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available