F26L (p.Phe26Leu) variant of MEFV (Pyrin)
F26L (p.Phe26Leu) in MEFV (Pyrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- TOPMed rs1177531648
- gnomAD rs1177531648
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available