S95C (p.Ser95Cys) variant of MEFV (Pyrin)
S95C (p.Ser95Cys) 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, autosomal dominant; Acute febrile neutrophilic der. The record also includes structural context.
S95C (p.Ser95Cys) variant details
- p.Ser95Cys
- ExAC rs772921403
- TOPMed rs772921403
- gnomAD rs772921403
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available