E93Q (p.Glu93Gln) variant of MEFV (Pyrin)
E93Q (p.Glu93Gln) 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; not provided; Acute febrile neutrophilic dermatosi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E93Q (p.Glu93Gln) variant details
- p.Glu93Gln
- rs138498376
- ClinGen CA7860489
- ClinVar RCV000348765
- ClinVar RCV001812836
- Conflicting interpretations
- Familial Mediterranean fever; not provided; Acute febrile neutrophilic dermatosi
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.27
- CADD 24.70
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever; not provided; Acute febrile neutro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)