G46S (p.Gly46Ser) variant of STAG2 (Cohesin subunit SA-2)
G46S (p.Gly46Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G46S (p.Gly46Ser) variant details
- p.Gly46Ser
- cosmic curated COSV54368
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.71
- Population evidence available
- Structural context available