T19N (p.Thr19Asn) variant of ACVRL1 (Activin receptor type-1-like)
T19N (p.Thr19Asn) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- rs2540157150
- ClinGen CA2582341783
- ClinVar RCV003333622
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). (PMID 10751092)
- Cited in: International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. (PMID 19553198)