N78D (p.Asn78Asp) variant of IRAK4 (Q9NWZ3)
N78D (p.Asn78Asp) 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 0.60 / 1. The record also includes population frequency data and structural context.
N78D (p.Asn78Asp) variant details
- p.Asn78Asp
- rs901161233
- ClinGen CA236371384
- ClinVar RCV002700305
- TOPMed rs901161233
- Uncertain significance
- Immunodeficiency 67
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.05
- ClinVar: Uncertain significance (Immunodeficiency 67)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.0011)
- Structural context available