L82P (p.Leu82Pro) variant of MEFV (Pyrin)
L82P (p.Leu82Pro) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L82P (p.Leu82Pro) variant details
- p.Leu82Pro
- 1000Genomes rs551547658
- ExAC rs551547658
- gnomAD rs551547658
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.77
- CADD 26.10
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available