M107I (p.Met107Ile) variant of IRF7 (Interferon regulatory factor 7)
M107I (p.Met107Ile) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
M107I (p.Met107Ile) variant details
- p.Met107Ile
- rs1856731863
- Ensembl rs1856731863
- ClinGen CA378983081
- ClinVar RCV001242798
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.61
- AlphaMissense 0.92
- MetaLR 0.88
- MetaSVM 0.91
- CADD 22.40
- PolyPhen-2 0.32
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available