Y23C (p.Tyr23Cys) variant of IRF8 (Interferon regulatory factor 8)
Y23C (p.Tyr23Cys) 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 0.84 / 1. The record also includes population frequency data and structural context.
Y23C (p.Tyr23Cys) variant details
- p.Tyr23Cys
- rs370086181
- ClinGen CA8216732
- ClinVar RCV001371444
- ESP rs370086181
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.845
- REVEL 0.97
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available