Q117* (p.Gln117Ter) variant of CARD9 (Q9H257)
Q117* (p.Gln117Ter) in CARD9 (Q9H257) 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.
Q117* (p.Gln117Ter) variant details
- p.Gln117Ter
- gnomAD rs1375893670
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 38.00
- Most common in the REMAINING population (allele frequency 1.7e-05)