A55T (p.Ala55Thr) variant of IRF7 (Interferon regulatory factor 7)
A55T (p.Ala55Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A55T (p.Ala55Thr) variant details
- p.Ala55Thr
- rs1196559888
- ClinGen CA378983581
- ClinVar RCV001968084
- ClinVar RCV004631852
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- AlphaMissense 0.15
- MetaLR 0.75
- MetaSVM 0.41
- CADD 19.40
- PolyPhen-2 0.91
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available