H143Q (p.His143Gln) variant of STAT2 (P52630)
H143Q (p.His143Gln) 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 0.28 / 1. The record also includes population frequency data and structural context.
H143Q (p.His143Gln) variant details
- p.His143Gln
- rs372975661
- ClinGen CA6630871
- ClinVar RCV001223533
- ESP rs372975661
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.06
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.94
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available