T42T (p.Thr42Thr) variant of STAG2 (Cohesin subunit SA-2)
T42T (p.Thr42Thr) in STAG2 (Cohesin subunit SA-2) is a protein-truncating 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.
T42T (p.Thr42Thr) variant details
- p.Thr42Thr
- rs772218422
- gnomAD X-124030963-T-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 15.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available