L57R (p.Leu57Arg) variant of MEFV (Pyrin)
L57R (p.Leu57Arg) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L57R (p.Leu57Arg) variant details
- p.Leu57Arg
- TOPMed rs1959116577
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available