A3E (p.Ala3Glu) variant of STAG2 (Cohesin subunit SA-2)
A3E (p.Ala3Glu) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD X-124022635-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.28
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available