M22I (p.Met22Ile) variant of IRF8 (Interferon regulatory factor 8)
M22I (p.Met22Ile) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
M22I (p.Met22Ile) variant details
- p.Met22Ile
- cosmic curated COSV10877
- TOPMed rs1396151109
- gnomAD rs1396151109
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.43
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available