P18T (p.Pro18Thr) variant of MEFV (Pyrin)
P18T (p.Pro18Thr) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- 1000Genomes rs538078075
- TOPMed rs538078075
- gnomAD rs538078075
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.13
- CADD 23.30
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available