Q61* (p.Gln61Ter) variant of IRAK4 (Q9NWZ3)
Q61* (p.Gln61Ter) 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 0.37 / 1.
Q61* (p.Gln61Ter) variant details
- p.Gln61Ter
- rs1266375962
- ClinGen CA384466049
- ClinVar RCV003609487
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.87
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.34
- EBI: Pathogenic
- UniProt: Pathogenic