A3T (p.Ala3Thr) variant of STAG2 (Cohesin subunit SA-2)
A3T (p.Ala3Thr) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD X-124022634-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.20
- CADD 24.20
- PolyPhen-2 0.99
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available