T80R (p.Thr80Arg) variant of IRF8 (Interferon regulatory factor 8)
T80R (p.Thr80Arg) 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 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
T80R (p.Thr80Arg) variant details
- p.Thr80Arg
- rs1905075639
- ClinGen CA397000609
- cosmic curated COSV10727
- ClinVar RCV001036021
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance (in IMD32A)
- UniProt: Uncertain significance (in IMD32A)
- Structural context available