Q44* (p.Gln44Ter) variant of MEFV (Pyrin)
Q44* (p.Gln44Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs1172820862
- ClinGen CA394484471
- ClinVar RCV001337573
- gnomAD rs1172820862
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.10
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.83
- SIFT 0.12
- MutPred 0.41
- 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)