K21N (p.Lys21Asn) variant of IRAK4 (Q9NWZ3)
K21N (p.Lys21Asn) in IRAK4 (Q9NWZ3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K21N (p.Lys21Asn) variant details
- p.Lys21Asn
- rs1282400178
- gnomAD 12-43768173-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 24.70
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available