P5L (p.Pro5Leu) variant of MEFV (Pyrin)
P5L (p.Pro5Leu) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- ExAC rs775861390
- TOPMed rs775861390
- gnomAD rs775861390
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available