R12L (p.Arg12Leu) variant of IRAK4 (Q9NWZ3)
R12L (p.Arg12Leu) in IRAK4 (Q9NWZ3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in IMD67. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- ESP rs370524518
- ExAC rs370524518
- TOPMed rs370524518
- gnomAD rs370524518
- Uncertain significance
- in IMD67
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance (in IMD67)
- UniProt: Uncertain significance (in IMD67)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available