T42A (p.Thr42Ala) variant of STAG2 (Cohesin subunit SA-2)
T42A (p.Thr42Ala) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T42A (p.Thr42Ala) variant details
- p.Thr42Ala
- gnomAD X-124030961-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.05
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available