S108R (p.Ser108Arg) variant of MEFV (Pyrin)
S108R (p.Ser108Arg) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S108R (p.Ser108Arg) variant details
- p.Ser108Arg
- rs104895103
- ClinGen CA280583
- ClinVar RCV000083767
- ClinVar RCV000586697
- Conflicting interpretations
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.37
- CADD 2.26
- PolyPhen-2 0.40
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Pathogenic (in ARFMF)
- UniProt: Pathogenic (in ARFMF)
- Population evidence available
- 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: Familial Mediterranean Fever. (PMID 20301405)