N15S (p.Asn15Ser) variant of IRAK4 (Q9NWZ3)
N15S (p.Asn15Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
N15S (p.Asn15Ser) variant details
- p.Asn15Ser
- rs772274120
- ClinGen CA6522266
- ClinVar RCV002785873
- ExAC rs772274120
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 8.16
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available