Q68* (p.Gln68Ter) variant of MEFV (Pyrin)
Q68* (p.Gln68Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q68* (p.Gln68Ter) variant details
- p.Gln68Ter
- rs1959115695
- ClinGen CA2202665887
- ClinVar RCV001339996
- ClinVar RCV002504532
- Benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.395
- CADD 33.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)