E22K (p.Glu22Lys) variant of MEFV (Pyrin)
E22K (p.Glu22Lys) 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; Acute febrile neutrophilic dermatosis; Familial Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- rs145289162
- ClinGen CA7860544
- cosmic curated COSV54826
- ClinVar RCV001326764
- Uncertain significance
- Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.21
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever; Acute febrile neutrophilic dermato)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)