A36T (p.Ala36Thr) variant of STAT2 (P52630)
A36T (p.Ala36Thr) 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 0.62 / 1. The record also includes population frequency data and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs1879530120
- ClinGen CA385264118
- ClinVar RCV001208734
- Ensembl rs1879530120
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.58
- CADD 24.60
- PolyPhen-2 0.89
- 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 9e-07)
- Structural context available