F11S (p.Phe11Ser) variant of STAG2 (Cohesin subunit SA-2)
F11S (p.Phe11Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- gnomAD X-124022659-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.25
- CADD 24.30
- PolyPhen-2 0.55
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available