G129V (p.Gly129Val) variant of SMC3 (Q9UQE7)
G129V (p.Gly129Val) 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 1.00 / 1. The record also includes published literature and structural context.
G129V (p.Gly129Val) variant details
- p.Gly129Val
- rs2493107856
- ClinGen CA378373872
- ClinVar RCV002294841
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- 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)