G46R (p.Gly46Arg) variant of STAG2 (Cohesin subunit SA-2)
G46R (p.Gly46Arg) in STAG2 (Cohesin subunit SA-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- gnomAD X-124030966-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.393
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available