C13F (p.Cys13Phe) variant of IRAK4 (Q9NWZ3)
C13F (p.Cys13Phe) 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 0.22 / 1. The record also includes population frequency data and structural context.
C13F (p.Cys13Phe) variant details
- p.Cys13Phe
- rs1163230363
- NCI-TCGA Cosmic COSV7121
- cosmic curated COSV71211
- gnomAD rs1163230363
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available