D24Y (p.Asp24Tyr) variant of STAG2 (Cohesin subunit SA-2)
D24Y (p.Asp24Tyr) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
D24Y (p.Asp24Tyr) variant details
- p.Asp24Tyr
- gnomAD X-124025865-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 26.70
- PolyPhen-2 0.43
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available