Y94* (p.Tyr94Ter) variant of MEFV (Pyrin)
Y94* (p.Tyr94Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Y94* (p.Tyr94Ter) variant details
- p.Tyr94Ter
- rs762535762
- ClinGen CA394482872
- ClinVar RCV000627309
- ExAC rs762535762
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available