Q36* (p.Gln36Ter) variant of CARD9 (Q9H257)
Q36* (p.Gln36Ter) 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 0.86 / 1. The record also includes population frequency data.
Q36* (p.Gln36Ter) variant details
- p.Gln36Ter
- rs768845190
- ClinGen CA5333251
- ClinVar RCV002816643
- ExAC rs768845190
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.865
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)