G56S (p.Gly56Ser) variant of STAG2 (Cohesin subunit SA-2)
G56S (p.Gly56Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G56S (p.Gly56Ser) variant details
- p.Gly56Ser
- rs761786663
- ClinGen CA335276893
- cosmic curated COSV54375
- ClinVar RCV003441694
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0673
- REVEL 0.04
- CADD 4.66
- PolyPhen-2 0.03
- SIFT 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0076)
- Structural context available