P5Q (p.Pro5Gln) variant of STAG2 (Cohesin subunit SA-2)
P5Q (p.Pro5Gln) 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.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- gnomAD X-124022641-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.09
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available