T19K (p.Thr19Lys) variant of STAG2 (Cohesin subunit SA-2)
T19K (p.Thr19Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
T19K (p.Thr19Lys) variant details
- p.Thr19Lys
- gnomAD X-124025851-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.11
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available