R42G (p.Arg42Gly) variant of MEFV (Pyrin)
R42G (p.Arg42Gly) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ARFMF. The record also includes structural context.
R42G (p.Arg42Gly) variant details
- p.Arg42Gly
- 1000Genomes rs61754767
- ESP rs61754767
- ExAC rs61754767
- TOPMed rs61754767
- Uncertain significance
- in ARFMF
- Missense
- EBI: Variant of uncertain significance (in ARFMF)
- UniProt: Uncertain significance (in ARFMF)
- Structural context available