E167D (p.Glu167Asp) variant of MEFV (Pyrin)
E167D (p.Glu167Asp) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial Mediterranean fever. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E167D (p.Glu167Asp) variant details
- p.Glu167Asp
- rs104895079
- ClinGen CA280099
- ClinVar RCV000002652
- ClinVar RCV000587727
- Pathogenic
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.54
- AlphaMissense 0.47
- MetaLR 0.00
- MetaSVM -0.93
- CADD 14.60
- PolyPhen-2 0.03
- ClinVar: Pathogenic (Familial Mediterranean fever)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel… (PMID 16378925)
- Cited in: MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever. (PMID 19863562)