L19C (p.Leu19Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
L19C (p.Leu19Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L19C (p.Leu19Cys) variant details
- p.Leu19Cys
- rs2491093863
- ClinGen CA2580079999
- ClinVar RCV002351639
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)