M35T (p.Met35Thr) variant of IRF8 (Interferon regulatory factor 8)
M35T (p.Met35Thr) 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 0.74 / 1. The record also includes population frequency data and structural context.
M35T (p.Met35Thr) variant details
- p.Met35Thr
- rs140921131
- ClinGen CA8216743
- ClinVar RCV002027744
- ESP rs140921131
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.83
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available