S108T (p.Ser108Thr) variant of MEFV (Pyrin)
S108T (p.Ser108Thr) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
S108T (p.Ser108Thr) variant details
- p.Ser108Thr
- rs1392896887
- ClinGen CA394482456
- ClinVar RCV002896639
- ClinVar RCV005011153
- Uncertain significance
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.0585
- REVEL 0.05
- CADD 0.52
- PolyPhen-2 0.09
- SIFT 0.39
- ClinVar: Uncertain significance (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Variant of uncertain significance (in ARFMF)
- UniProt: Uncertain significance (in ARFMF)
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)