Q52* (p.Gln52Ter) variant of DDX41 (Q9UJV9)
Q52* (p.Gln52Ter) in DDX41 (Q9UJV9) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
Q52* (p.Gln52Ter) variant details
- p.Gln52Ter
- rs2532090465
- ClinGen CA362377502
- ClinVar RCV003941362
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 40.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available