Q42E (p.Gln42Glu) variant of STAT2 (P52630)
Q42E (p.Gln42Glu) in STAT2 (P52630) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q42E (p.Gln42Glu) variant details
- p.Gln42Glu
- TOPMed rs1258502384
- gnomAD rs1258502384
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.30
- CADD 25.20
- PolyPhen-2 0.95
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available