D22A (p.Asp22Ala) variant of ACVRL1 (Activin receptor type-1-like)
D22A (p.Asp22Ala) 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.
D22A (p.Asp22Ala) variant details
- p.Asp22Ala
- Ensembl rs1592221445
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available