S109F (p.Ser109Phe) variant of MEFV (Pyrin)
S109F (p.Ser109Phe) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S109F (p.Ser109Phe) variant details
- p.Ser109Phe
- rs2543157184
- ClinGen CA394482416
- ClinVar RCV002605464
- ClinVar RCV003130734
- Uncertain significance
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.31
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 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)