I39V (p.Ile39Val) variant of IRAK4 (Q9NWZ3)
I39V (p.Ile39Val) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs113588409
- UniProt VAR 072891
- TOPMed rs113588409
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 23.40
- PolyPhen-2 0.91
- SIFT 0.10
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)