Q129E (p.Gln129Glu) variant of STAT2 (P52630)
Q129E (p.Gln129Glu) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q129E (p.Gln129Glu) variant details
- p.Gln129Glu
- ExAC rs776916090
- TOPMed rs776916090
- gnomAD rs776916090
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.42
- CADD 17.20
- PolyPhen-2 0.28
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available