P44R (p.Pro44Arg) variant of DYSF (Dysferlin)
P44R (p.Pro44Arg) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- ExAC rs773503180
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available