F47L (p.Phe47Leu) variant of SMC3 (Q9UQE7)
F47L (p.Phe47Leu) in SMC3 (Q9UQE7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cornelia de Lange syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- rs863225258
- ClinGen CA279574
- ClinVar RCV000201864
- Ensembl rs863225258
- Pathogenic
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.71
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Cornelia de Lange syndrome 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels… (PMID 25125236)
- Cited in: De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. (PMID 25655089)