R39K (p.Arg39Lys) variant of MEFV (Pyrin)
R39K (p.Arg39Lys) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R39K (p.Arg39Lys) variant details
- p.Arg39Lys
- rs141288548
- ClinGen CA7860532
- ClinVar RCV000586069
- ClinVar RCV001045327
- Conflicting interpretations
- Familial Mediterranean fever; Acute febrile neutrophilic dermatosis; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.11
- CADD 19.20
- PolyPhen-2 0.43
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever; Acute febrile neutrophilic dermato)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)