G125E (p.Gly125Glu) variant of STAT4 (Q14765)
G125E (p.Gly125Glu) in STAT4 (Q14765) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
G125E (p.Gly125Glu) variant details
- p.Gly125Glu
- ExAC rs773188982
- gnomAD rs773188982
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- MetaLR 0.73
- MetaSVM 0.17
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available