E244K (p.Glu244Lys) variant of MEFV (Pyrin)
E244K (p.Glu244Lys) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acute febrile neutrophilic dermatosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
E244K (p.Glu244Lys) variant details
- p.Glu244Lys
- rs1959081392
- ClinGen CA394478061
- ClinVar RCV001174525
- UniProt VAR 084467
- Pathogenic
- Acute febrile neutrophilic dermatosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.16
- MetaLR 0.29
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- ClinVar: Pathogenic (Acute febrile neutrophilic dermatosis)
- EBI: Pathogenic (in PAAND)
- UniProt: Pathogenic (in PAAND)
- Structural context available
- Cited in: A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin… (PMID 28835462)
- Cited in: Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. (PMID 27030597)