I53V (p.Ile53Val) variant of IRAK4 (Q9NWZ3)
I53V (p.Ile53Val) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- NCI-TCGA Cosmic COSV7121
- cosmic curated COSV71210
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available