P44C (p.Pro44Cys) variant of ACVRL1 (Activin receptor type-1-like)
P44C (p.Pro44Cys) 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.
P44C (p.Pro44Cys) variant details
- p.Pro44Cys
- rs2540158399
- ClinGen CA2580086430
- ClinVar RCV002380826
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available