A76V (p.Ala76Val) variant of IRF8 (Interferon regulatory factor 8)
A76V (p.Ala76Val) 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 0.86 / 1. The record also includes structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- rs2152100693
- ClinGen CA397000583
- ClinVar RCV001952983
- Ensembl rs2152100693
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.864
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.07
- EVE 0.64
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available