Y61N (p.Tyr61Asn) variant of MEFV (Pyrin)
Y61N (p.Tyr61Asn) 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 0.47 / 1. The record also includes published literature and structural context.
Y61N (p.Tyr61Asn) variant details
- p.Tyr61Asn
- rs768043268
- ClinGen CA394483908
- ClinVar RCV001954863
- ExAC rs768043268
- Uncertain significance
- Familial Mediterranean fever
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.74
- MetaLR 0.31
- MetaSVM -0.63
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- 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)