A8T (p.Ala8Thr) variant of IRF7 (Interferon regulatory factor 7)
A8T (p.Ala8Thr) 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 0.39 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs759529456
- ClinGen CA5784113
- ClinVar RCV001963766
- ExAC rs759529456
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.12
- MetaLR 0.60
- MetaSVM -0.16
- CADD 12.70
- PolyPhen-2 0.42
- SIFT 0.10
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available