F42S (p.Phe42Ser) variant of SMC3 (Q9UQE7)
F42S (p.Phe42Ser) 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 0.88 / 1. The record also includes published literature and structural context.
F42S (p.Phe42Ser) variant details
- p.Phe42Ser
- rs1554881901
- ClinGen CA378369475
- ClinVar RCV000534058
- Ensembl rs1554881901
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.84
- 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)