I3V (p.Ile3Val) variant of SMC3 (Q9UQE7)
I3V (p.Ile3Val) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
I3V (p.Ile3Val) variant details
- p.Ile3Val
- rs1860796091
- ClinGen CA378367568
- ClinVar RCV001198308
- Ensembl rs1860796091
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.48
- ESM-1b 0.76
- AlphaMissense 0.34
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)