T25I (p.Thr25Ile) variant of STAG2 (Cohesin subunit SA-2)
T25I (p.Thr25Ile) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- gnomAD X-124025869-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available