E84K (p.Glu84Lys) variant of MEFV (Pyrin)
E84K (p.Glu84Lys) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Acute febrile neutrophilic dermatosis; Familial Mediterranean fev. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- rs150819742
- ClinGen CA7860493
- ClinVar RCV000779184
- ClinVar RCV001002344
- Conflicting interpretations
- not specified; Acute febrile neutrophilic dermatosis; Familial Mediterranean fev
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Acute febrile neutrophilic dermatosis; Familial M)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:JPT population (allele frequency 0.015)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)