A9T (p.Ala9Thr) variant of IRF7 (Interferon regulatory factor 7)
A9T (p.Ala9Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- rs1589925152
- ClinGen CA378985075
- ClinVar RCV000794388
- TOPMed rs1589925152
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- AlphaMissense 0.10
- MetaLR 0.56
- MetaSVM -0.41
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available