E84D (p.Glu84Asp) variant of MEFV (Pyrin)
E84D (p.Glu84Asp) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial Mediterranean fever; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E84D (p.Glu84Asp) variant details
- p.Glu84Asp
- rs1346006078
- ClinGen CA394483481
- ClinVar RCV002592115
- ClinVar RCV006363231
- Uncertain significance
- Familial Mediterranean fever; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial Mediterranean fever; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)