L124* (p.Leu124Ter) variant of SMC1A (Q14683)
L124* (p.Leu124Ter) in SMC1A (Q14683) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
L124* (p.Leu124Ter) variant details
- p.Leu124Ter
- rs1556891045
- ClinGen CA413131522
- ClinVar RCV003009631
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.85
- MetaLR 0.23
- MetaSVM -0.82
- PolyPhen-2 0.81
- SIFT 0.00
- EVE 0.31
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)