R80C (p.Arg80Cys) variant of MEFV (Pyrin)
R80C (p.Arg80Cys) 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; Autoinflammatory syndrome. 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.
R80C (p.Arg80Cys) variant details
- p.Arg80Cys
- rs766608226
- ClinGen CA7860498
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99561
- Uncertain significance
- Familial Mediterranean fever; Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- CADD 23.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Familial Mediterranean fever; Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00016)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)