T25K (p.Thr25Lys) variant of STAG2 (Cohesin subunit SA-2)
T25K (p.Thr25Lys) 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.
T25K (p.Thr25Lys) variant details
- p.Thr25Lys
- gnomAD X-124025869-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.55
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available