S130C (p.Ser130Cys) variant of ACVR1 (Activin receptor type-1)
S130C (p.Ser130Cys) 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.
S130C (p.Ser130Cys) variant details
- p.Ser130Cys
- rs1342623415
- ClinGen CA349193032
- ClinVar RCV003022751
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available