E6K (p.Glu6Lys) variant of STAG2 (Cohesin subunit SA-2)
E6K (p.Glu6Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- gnomAD X-124022643-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.26
- CADD 24.30
- PolyPhen-2 0.11
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available