K180Q (p.Lys180Gln) variant of SMC3 (Q9UQE7)
K180Q (p.Lys180Gln) 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 0.65 / 1. The record also includes published literature and structural context.
K180Q (p.Lys180Gln) variant details
- p.Lys180Gln
- rs2493111137
- ClinGen CA378375675
- ClinVar RCV003054858
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- ESM-1b 1.00
- AlphaMissense 0.23
- 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)