E16K (p.Glu16Lys) variant of STAG2 (Cohesin subunit SA-2)
E16K (p.Glu16Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- cosmic curated COSV10725
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.13
- CADD 26.10
- PolyPhen-2 0.06
- SIFT 0.02
- Population evidence available
- Structural context available