I15M (p.Ile15Met) variant of IRF8 (Interferon regulatory factor 8)
I15M (p.Ile15Met) 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 0.31 / 1. The record also includes population frequency data and structural context.
I15M (p.Ile15Met) variant details
- p.Ile15Met
- rs764958679
- ClinGen CA397000142
- ClinVar RCV001036891
- ExAC rs764958679
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.48
- CADD 4.73
- PolyPhen-2 0.29
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available