Q29* (p.Gln29Ter) variant of MEFV (Pyrin)
Q29* (p.Gln29Ter) in MEFV (Pyrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- TOPMed rs1256950394
- gnomAD rs1256950394
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 38.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available