V36L (p.Val36Leu) variant of ACVR1 (Activin receptor type-1)
V36L (p.Val36Leu) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ACVR1-related disorder. The record also includes structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs2467967930
- ClinGen CA349193993
- ClinVar RCV003983433
- Uncertain significance
- ACVR1-related disorder
- Missense
- ClinVar: Uncertain significance (ACVR1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available