P50S (p.Pro50Ser) variant of MEFV (Pyrin)
P50S (p.Pro50Ser) in MEFV (Pyrin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- TOPMed rs1243710109
- gnomAD rs1243710109
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.21
- CADD 24.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available