Q69* (p.Gln69Ter) variant of CARD9 (Q9H257)
Q69* (p.Gln69Ter) in CARD9 (Q9H257) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
Q69* (p.Gln69Ter) variant details
- p.Gln69Ter
- rs1310355874
- ClinGen CA375546179
- ClinVar RCV003607635
- gnomAD rs1310355874
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available