D24E (p.Asp24Glu) variant of STAG2 (Cohesin subunit SA-2)
D24E (p.Asp24Glu) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D24E (p.Asp24Glu) variant details
- p.Asp24Glu
- gnomAD X-124025867-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 17.60
- PolyPhen-2 0.12
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available