S242R (p.Ser242Arg) variant of MEFV (Pyrin)
S242R (p.Ser242Arg) 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; Familial Mediterranean fever, autosomal dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S242R (p.Ser242Arg) variant details
- p.Ser242Arg
- rs104895127
- ClinGen CA280647
- ClinVar RCV000083792
- ClinVar RCV001804836
- Conflicting interpretations
- Familial Mediterranean fever; Familial Mediterranean fever, autosomal dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.50
- CADD 21.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Pathogenic (in PAAND)
- UniProt: Pathogenic (in PAAND)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. (PMID 27030597)
- Cited in: First case of pyrin-associated autoinflammation with neutrophilic dermatosis complicated by amyloidosis. (PMID 31998953)