E84Q (p.Glu84Gln) variant of MEFV (Pyrin)
E84Q (p.Glu84Gln) 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, autosomal dominant; Acute febrile neutrophilic der. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E84Q (p.Glu84Gln) variant details
- p.Glu84Gln
- rs150819742
- ClinGen CA7860492
- ClinVar RCV002041254
- ClinVar RCV002486745
- Conflicting interpretations
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)