G46D (p.Gly46Asp) variant of STAG2 (Cohesin subunit SA-2)
G46D (p.Gly46Asp) 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 and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- Ensembl rs2148061890
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.28
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.59
- Population evidence available
- Structural context available