F21L (p.Phe21Leu) variant of MEFV (Pyrin)
F21L (p.Phe21Leu) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- rs1959118627
- ClinGen CA394485271
- ClinVar RCV002780154
- TOPMed rs1959118627
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.16
- CADD 15.70
- PolyPhen-2 0.31
- SIFT 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)