S104C (p.Ser104Cys) variant of MEFV (Pyrin)
S104C (p.Ser104Cys) in MEFV (Pyrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
S104C (p.Ser104Cys) variant details
- p.Ser104Cys
- rs151306047
- ClinGen CA7860459
- ClinVar RCV000701319
- ClinVar RCV002493230
- Conflicting interpretations
- Familial Mediterranean fever, autosomal dominant; Acute febrile neutrophilic der
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.19
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.07
- CADD 14.70
- PolyPhen-2 0.01
- ClinVar: Conflicting classifications of pathogenicity (Familial Mediterranean fever, autosomal dominant; Acute febrile)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)