E85M (p.Glu85Met) variant of MEFV (Pyrin)
E85M (p.Glu85Met) in MEFV (Pyrin) 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.
E85M (p.Glu85Met) variant details
- p.Glu85Met
- rs2141679351
- ClinGen CA2580091084
- ClinVar RCV002276392
- Ensembl rs2141679351
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available