V62I (p.Val62Ile) variant of IRF8 (Interferon regulatory factor 8)
V62I (p.Val62Ile) 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 0.53 / 1. The record also includes structural context.
V62I (p.Val62Ile) variant details
- p.Val62Ile
- rs1597251890
- ClinGen CA397000486
- ClinVar RCV000818680
- Ensembl rs1597251890
- Uncertain significance
- Immunodeficiency 32B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- AlphaMissense 0.07
- MetaLR 0.78
- MetaSVM 0.48
- PolyPhen-2 0.11
- SIFT 0.25
- EVE 0.13
- ClinVar: Uncertain significance (Immunodeficiency 32B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available