L40F (p.Leu40Phe) variant of ACVR1 (Activin receptor type-1)
L40F (p.Leu40Phe) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- cosmic curated COSV10801
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available