E52K (p.Glu52Lys) variant of STAG2 (Cohesin subunit SA-2)
E52K (p.Glu52Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- gnomAD X-124030991-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.13
- CADD 22.60
- PolyPhen-2 0.11
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available