K197T (p.Lys197Thr) variant of STAT2 (P52630)
K197T (p.Lys197Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
K197T (p.Lys197Thr) variant details
- p.Lys197Thr
- rs762129965
- ClinGen CA6630820
- cosmic curated COSV58475
- ClinVar RCV003755148
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.14
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.06
- 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 9.9e-06)
- Structural context available