L124R (p.Leu124Arg) variant of SMC3 (Q9UQE7)
L124R (p.Leu124Arg) 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 0.89 / 1. The record also includes published literature and structural context.
L124R (p.Leu124Arg) variant details
- p.Leu124Arg
- rs1590553017
- ClinGen CA378373770
- NCI-TCGA Cosmic COSV6242
- ClinVar RCV000790518
- Uncertain significance
- Cornelia de Lange syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)