I5V (p.Ile5Val) variant of IRAK4 (Q9NWZ3)
I5V (p.Ile5Val) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I5V (p.Ile5Val) variant details
- p.Ile5Val
- rs56312115
- ClinGen CA6522261
- ClinVar RCV000942009
- UniProt VAR 040588
- Conflicting interpretations
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 1.22
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency 67)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: Functional assessment of the mutational effects of human IRAK4 and MyD88 genes. (PMID 24316379)