S140G (p.Ser140Gly) variant of STAT2 (P52630)
S140G (p.Ser140Gly) 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 0.23 / 1. The record also includes population frequency data and structural context.
S140G (p.Ser140Gly) variant details
- p.Ser140Gly
- rs758869093
- ClinGen CA6630873
- ClinVar RCV001210593
- ExAC rs758869093
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.12
- CADD 20.30
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available