Q12L (p.Gln12Leu) variant of IRF8 (Interferon regulatory factor 8)
Q12L (p.Gln12Leu) 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 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q12L (p.Gln12Leu) variant details
- p.Gln12Leu
- rs1388876338
- ClinGen CA397000119
- ClinVar RCV001978245
- TOPMed rs1388876338
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.90
- CADD 29.30
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available