S98F (p.Ser98Phe) variant of STAT2 (P52630)
S98F (p.Ser98Phe) 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.
S98F (p.Ser98Phe) variant details
- p.Ser98Phe
- rs1294214696
- ClinGen CA385263660
- ClinVar RCV002006939
- gnomAD rs1294214696
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.03
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.65
- 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 3.6e-06)
- Structural context available