I7V (p.Ile7Val) variant of STAG2 (Cohesin subunit SA-2)
I7V (p.Ile7Val) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I7V (p.Ile7Val) variant details
- p.Ile7Val
- gnomAD X-124022646-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.08
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available