A4D (p.Ala4Asp) variant of STAG2 (Cohesin subunit SA-2)
A4D (p.Ala4Asp) 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.
A4D (p.Ala4Asp) variant details
- p.Ala4Asp
- gnomAD X-124022638-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available