L13C (p.Leu13Cys) variant of ACVRL1 (Activin receptor type-1-like)
L13C (p.Leu13Cys) 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.
L13C (p.Leu13Cys) variant details
- p.Leu13Cys
- rs1085307404
- ClinGen CA645293883
- ClinVar RCV000488723
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available