C43F (p.Cys43Phe) variant of STAG2 (Cohesin subunit SA-2)
C43F (p.Cys43Phe) 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 and structural context.
C43F (p.Cys43Phe) variant details
- p.Cys43Phe
- ExAC rs777752836
- gnomAD rs777752836
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available