K25* (p.Lys25Ter) variant of ACVRL1 (Activin receptor type-1-like)
K25* (p.Lys25Ter) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K25* (p.Lys25Ter) variant details
- p.Lys25Ter
- rs2540158136
- ClinGen CA384897391
- ClinVar RCV002380509
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available