D73E (p.Asp73Glu) variant of IRAK4 (Q9NWZ3)
D73E (p.Asp73Glu) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D73E (p.Asp73Glu) variant details
- p.Asp73Glu
- NCI-TCGA TCGA novel
- ESP rs374971450
- ExAC rs374971450
- TOPMed rs374971450
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 21.80
- PolyPhen-2 0.38
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available