N34D (p.Asn34Asp) variant of STAG2 (Cohesin subunit SA-2)
N34D (p.Asn34Asp) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- gnomAD X-124025895-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available