I26V (p.Ile26Val) variant of IRAK4 (Q9NWZ3)
I26V (p.Ile26Val) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs768548402
- ClinGen CA6522272
- ClinVar RCV003051165
- ExAC rs768548402
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available