F479L (p.Phe479Leu) variant of MEFV (Pyrin)
F479L (p.Phe479Leu) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F479L (p.Phe479Leu) variant details
- p.Phe479Leu
- rs104895083
- ClinGen CA7860129
- cosmic curated COSV54818
- ClinVar RCV003106758
- Conflicting interpretations
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.30
- CADD 1.35
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal… (PMID 10364520)
- Cited in: Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel… (PMID 16378925)