G43D (p.Gly43Asp) variant of ACVRL1 (Activin receptor type-1-like)
G43D (p.Gly43Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- rs2540158393
- ClinGen CA2580086429
- ClinVar RCV002376523
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available