A38P (p.Ala38Pro) variant of IRAK4 (Q9NWZ3)
A38P (p.Ala38Pro) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A38P (p.Ala38Pro) variant details
- p.Ala38Pro
- 1000Genomes rs565544986
- ExAC rs565544986
- TOPMed rs565544986
- gnomAD rs565544986
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 21.30
- PolyPhen-2 0.35
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available