F11L (p.Phe11Leu) variant of STAG2 (Cohesin subunit SA-2)
F11L (p.Phe11Leu) in STAG2 (Cohesin subunit SA-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F11L (p.Phe11Leu) variant details
- p.Phe11Leu
- gnomAD X-124022656-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available