I2V (p.Ile2Val) variant of STAG2 (Cohesin subunit SA-2)
I2V (p.Ile2Val) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I2V (p.Ile2Val) variant details
- p.Ile2Val
- Ensembl rs2148001384
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.36
- CADD 24.50
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available