L69F (p.Leu69Phe) variant of MEFV (Pyrin)
L69F (p.Leu69Phe) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L69F (p.Leu69Phe) variant details
- p.Leu69Phe
- TOPMed rs1480168640
- gnomAD rs1480168640
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.34
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available