C13Y (p.Cys13Tyr) variant of IRAK4 (Q9NWZ3)
C13Y (p.Cys13Tyr) 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 0.19 / 1. The record also includes population frequency data and structural context.
C13Y (p.Cys13Tyr) variant details
- p.Cys13Tyr
- rs1163230363
- ClinGen CA384464404
- ClinVar RCV001234555
- gnomAD rs1163230363
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.70
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available