R155G (p.Arg155Gly) variant of SMC3 (Q9UQE7)
R155G (p.Arg155Gly) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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.
R155G (p.Arg155Gly) variant details
- p.Arg155Gly
- rs2493111036
- ClinGen CA378375268
- ClinVar RCV003984930
- Likely pathogenic
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)