F11I (p.Phe11Ile) variant of STAG2 (Cohesin subunit SA-2)
F11I (p.Phe11Ile) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
F11I (p.Phe11Ile) variant details
- p.Phe11Ile
- gnomAD X-124022658-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available