A3V (p.Ala3Val) variant of STAG2 (Cohesin subunit SA-2)
A3V (p.Ala3Val) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD X-124022635-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.24
- CADD 25.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available