L57P (p.Leu57Pro) variant of ACVR1 (Activin receptor type-1)
L57P (p.Leu57Pro) 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 not provided. The record also includes structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- rs2467967614
- ClinGen CA349193847
- ClinVar RCV002972485
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available