R75L (p.Arg75Leu) variant of MEFV (Pyrin)
R75L (p.Arg75Leu) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R75L (p.Arg75Leu) variant details
- p.Arg75Leu
- ESP rs376891162
- ExAC rs376891162
- TOPMed rs376891162
- gnomAD rs376891162
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available