P50Q (p.Pro50Gln) variant of MEFV (Pyrin)
P50Q (p.Pro50Gln) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
P50Q (p.Pro50Gln) variant details
- p.Pro50Gln
- ESP rs144716190
- ExAC rs144716190
- TOPMed rs144716190
- gnomAD rs144716190
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available