I2T (p.Ile2Thr) variant of STAG2 (Cohesin subunit SA-2)
I2T (p.Ile2Thr) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mullegama-Klein-Martinez syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
I2T (p.Ile2Thr) variant details
- p.Ile2Thr
- rs2056968861
- ClinGen CA414271407
- ClinVar RCV001332728
- Ensembl rs2056968861
- Uncertain significance
- Mullegama-Klein-Martinez syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- AlphaMissense 0.97
- MetaLR 0.21
- MetaSVM -0.78
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.40
- ClinVar: Uncertain significance (Mullegama-Klein-Martinez syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available