E128G (p.Glu128Gly) variant of STAT2 (P52630)
E128G (p.Glu128Gly) in STAT2 (P52630) is a missense change. 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.
E128G (p.Glu128Gly) variant details
- p.Glu128Gly
- 1000Genomes rs537645066
- ExAC rs537645066
- gnomAD rs537645066
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- CADD 17.20
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available