A4T (p.Ala4Thr) variant of STAG2 (Cohesin subunit SA-2)
A4T (p.Ala4Thr) in STAG2 (Cohesin subunit SA-2) is a missense 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.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- gnomAD X-124022637-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available