N2K (p.Asn2Lys) variant of IRAK4 (Q9NWZ3)
N2K (p.Asn2Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- rs1940358839
- ClinGen CA384464341
- ClinVar RCV001336326
- Ensembl rs1940358839
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- CADD 22.00
- PolyPhen-2 0.17
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available