R54K (p.Arg54Lys) variant of IRAK4 (Q9NWZ3)
R54K (p.Arg54Lys) 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 0.86 / 1. The record also includes population frequency data and structural context.
R54K (p.Arg54Lys) variant details
- p.Arg54Lys
- rs1345805635
- ClinGen CA384464787
- ClinVar RCV001320858
- TOPMed rs1345805635
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- CADD 35.00
- PolyPhen-2 0.82
- SIFT 0.24
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available