A49P (p.Ala49Pro) variant of ACVRL1 (Activin receptor type-1-like)
A49P (p.Ala49Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available record places it in the context of Telangiectasia, hereditary hemorrhagic, type 2. The record also includes structural context.
A49P (p.Ala49Pro) variant details
- p.Ala49Pro
- rs863223415
- NCI-TCGA Cosmic COSV6635
- not provided
- Telangiectasia, hereditary hemorrhagic, type 2
- Missense
- ClinVar: not provided (Telangiectasia, hereditary hemorrhagic, type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available