T19A (p.Thr19Ala) variant of STAG2 (Cohesin subunit SA-2)
T19A (p.Thr19Ala) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- gnomAD X-124025850-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.13
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available