G49C (p.Gly49Cys) variant of STAG2 (Cohesin subunit SA-2)
G49C (p.Gly49Cys) 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 0.27 / 1. The record also includes structural context.
G49C (p.Gly49Cys) variant details
- p.Gly49Cys
- rs1053797512
- ClinGen CA414272198
- ClinVar RCV002943339
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- AlphaMissense 0.66
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 0.34
- SIFT 0.02
- EVE 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available