C43C (p.Cys43Cys) variant of STAG2 (Cohesin subunit SA-2)
C43C (p.Cys43Cys) in STAG2 (Cohesin subunit SA-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
C43C (p.Cys43Cys) variant details
- p.Cys43Cys
- rs1302246821
- gnomAD X-124030966-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 11.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available