Y48* (p.Tyr48Ter) variant of IRAK4 (Q9NWZ3)
Y48* (p.Tyr48Ter) in IRAK4 (Q9NWZ3) 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 0.43 / 1. The record also includes population frequency data and structural context.
Y48* (p.Tyr48Ter) variant details
- p.Tyr48Ter
- rs2540412097
- ClinGen CA2740092355
- ClinVar RCV003860196
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available