Q97* (p.Gln97Ter) variant of MEFV (Pyrin)
Q97* (p.Gln97Ter) in MEFV (Pyrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q97* (p.Gln97Ter) variant details
- p.Gln97Ter
- rs747515115
- ClinGen CA7860464
- ClinVar RCV000293866
- ClinVar RCV002480142
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 34.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Familial Mediterranean Fever. (PMID 20301405)
- Cited in: Guidelines for the genetic diagnosis of hereditary recurrent fevers. (PMID 22661645)