S32C (p.Ser32Cys) variant of MEFV (Pyrin)
S32C (p.Ser32Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- rs1959117976
- ClinGen CA394484813
- ClinVar RCV001059920
- Ensembl rs1959117976
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.14
- MetaLR 0.21
- MetaSVM -0.91
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.62
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)