F90S (p.Phe90Ser) variant of STAT2 (P52630)
F90S (p.Phe90Ser) 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 0.34 / 1. The record also includes population frequency data and structural context.
F90S (p.Phe90Ser) variant details
- p.Phe90Ser
- rs189335310
- ClinGen CA237655767
- cosmic curated COSV10002
- ClinVar RCV002009414
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.19
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.37
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available