Q15K (p.Gln15Lys) variant of STAG2 (Cohesin subunit SA-2)
Q15K (p.Gln15Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- gnomAD X-124022670-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available