D19G (p.Asp19Gly) variant of IRF8 (Interferon regulatory factor 8)
D19G (p.Asp19Gly) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
D19G (p.Asp19Gly) variant details
- p.Asp19Gly
- rs1391251618
- ClinGen CA397000170
- ClinVar RCV003795304
- gnomAD rs1391251618
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.85
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available