I94T (p.Ile94Thr) variant of STAT2 (P52630)
I94T (p.Ile94Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- rs1340098251
- ClinGen CA385263699
- ClinVar RCV003049157
- gnomAD rs1340098251
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.24
- CADD 25.60
- PolyPhen-2 0.57
- SIFT 0.00
- 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 1.5e-05)
- Structural context available