G40D (p.Gly40Asp) variant of STAG2 (Cohesin subunit SA-2)
G40D (p.Gly40Asp) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G40D (p.Gly40Asp) variant details
- p.Gly40Asp
- gnomAD X-124025914-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.58
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available