T9I (p.Thr9Ile) variant of STAG2 (Cohesin subunit SA-2)
T9I (p.Thr9Ile) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- gnomAD X-124022653-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.07
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available