E135K (p.Glu135Lys) variant of STAT2 (P52630)
E135K (p.Glu135Lys) 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 0.26 / 1. The record also includes population frequency data and structural context.
E135K (p.Glu135Lys) variant details
- p.Glu135Lys
- rs753806117
- ClinGen CA6630875
- ClinVar RCV001230385
- ExAC rs753806117
- Uncertain significance
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.11
- CADD 5.90
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (Primary immunodeficiency with post-measles-mumps-rubella vaccine)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available