E49D (p.Glu49Asp) variant of ACVR1 (Activin receptor type-1)
E49D (p.Glu49Asp) in ACVR1 (Activin receptor type-1) is a missense change. The record also includes structural context.
E49D (p.Glu49Asp) variant details
- p.Glu49Asp
- cosmic curated COSV55116
- Missense
- Structural context available