S34R (p.Ser34Arg) variant of IRF8 (Interferon regulatory factor 8)
S34R (p.Ser34Arg) 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 Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S34R (p.Ser34Arg) variant details
- p.Ser34Arg
- rs200775854
- ClinGen CA8216742
- ClinVar RCV002607674
- 1000Genomes rs200775854
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.42
- CADD 22.70
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available