L86P (p.Leu86Pro) variant of MEFV (Pyrin)
L86P (p.Leu86Pro) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L86P (p.Leu86Pro) variant details
- p.Leu86Pro
- ExAC rs760507030
- gnomAD rs760507030
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.58
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available