A3G (p.Ala3Gly) variant of STAG2 (Cohesin subunit SA-2)
A3G (p.Ala3Gly) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- gnomAD X-124022635-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.21
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available