L108R (p.Leu108Arg) variant of IRF7 (Interferon regulatory factor 7)
L108R (p.Leu108Arg) 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 0.49 / 1. The record also includes population frequency data and structural context.
L108R (p.Leu108Arg) variant details
- p.Leu108Arg
- rs1286419696
- ClinGen CA378983073
- ClinVar RCV003752582
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.39
- AlphaMissense 0.22
- MetaLR 0.80
- MetaSVM 0.30
- CADD 14.90
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.2e-06)
- Structural context available