Q37K (p.Gln37Lys) variant of STAG2 (Cohesin subunit SA-2)
Q37K (p.Gln37Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q37K (p.Gln37Lys) variant details
- p.Gln37Lys
- gnomAD X-124025904-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.10
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available