Y19C (p.Tyr19Cys) variant of MEFV (Pyrin)
Y19C (p.Tyr19Cys) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Y19C (p.Tyr19Cys) variant details
- p.Tyr19Cys
- rs769605806
- ClinGen CA7860547
- ClinVar RCV001373082
- ClinVar RCV001573106
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.15
- CADD 24.90
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (Familial Mediterranean fever)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)