T80A (p.Thr80Ala) variant of IRF8 (Interferon regulatory factor 8)
T80A (p.Thr80Ala) in IRF8 (Interferon regulatory factor 8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
T80A (p.Thr80Ala) variant details
- p.Thr80Ala
- rs397514711
- ClinGen CA144516
- NCI-TCGA Cosmic COSV5189
- cosmic curated COSV51897
- Likely pathogenic
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.48
- ClinVar: Likely pathogenic (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Pathogenic (in IMD32A)
- UniProt: Pathogenic (in IMD32A)
- Structural context available
- Cited in: IRF8 mutations and human dendritic-cell immunodeficiency. (PMID 21524210)