Q79* (p.Gln79Ter) variant of MEFV (Pyrin)
Q79* (p.Gln79Ter) in MEFV (Pyrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q79* (p.Gln79Ter) variant details
- p.Gln79Ter
- ExAC rs751671376
- gnomAD rs751671376
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available