E18Q (p.Glu18Gln) variant of STAG2 (Cohesin subunit SA-2)
E18Q (p.Glu18Gln) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E18Q (p.Glu18Gln) variant details
- p.Glu18Gln
- gnomAD X-124025847-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.07
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available