R61W (p.Arg61Trp) variant of SMC3 (Q9UQE7)
R61W (p.Arg61Trp) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cornelia de Lange syndrome 3; SMC3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
R61W (p.Arg61Trp) variant details
- p.Arg61Trp
- rs866273473
- ClinGen CA213226657
- ClinVar RCV000760292
- Ensembl rs866273473
- Conflicting interpretations
- Cornelia de Lange syndrome 3; SMC3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.54
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cornelia de Lange syndrome 3; SMC3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)