A57G (p.Ala57Gly) variant of IRF7 (Interferon regulatory factor 7)
A57G (p.Ala57Gly) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 39. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
A57G (p.Ala57Gly) variant details
- p.Ala57Gly
- rs1320063877
- ClinGen CA378983566
- ClinVar RCV003040097
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.49
- MetaLR 0.88
- MetaSVM 0.46
- PolyPhen-2 1.00
- SIFT 1.00
- MutPred 0.73
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available