E126G (p.Glu126Gly) variant of SMC3 (Q9UQE7)
E126G (p.Glu126Gly) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E126G (p.Glu126Gly) variant details
- p.Glu126Gly
- rs113411202
- ClinGen CA272635
- ClinVar RCV000147597
- Ensembl rs113411202
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)