L82S (p.Leu82Ser) variant of IRF8 (Interferon regulatory factor 8)
L82S (p.Leu82Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L82S (p.Leu82Ser) variant details
- p.Leu82Ser
- rs1333675827
- TOPMed rs1333675827
- gnomAD rs1333675827
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.98
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available