S107A (p.Ser107Ala) variant of MEFV (Pyrin)
S107A (p.Ser107Ala) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S107A (p.Ser107Ala) variant details
- p.Ser107Ala
- rs756029520
- ClinGen CA7860457
- ClinVar RCV001307126
- ClinVar RCV002476413
- Conflicting interpretations
- Acute febrile neutrophilic dermatosis; Familial Mediterranean fever; Familial Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.28
- CADD 13.80
- PolyPhen-2 0.39
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Acute febrile neutrophilic dermatosis; Familial Mediterranean fe)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)