E84A (p.Glu84Ala) variant of IRF7 (Interferon regulatory factor 7)
E84A (p.Glu84Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
E84A (p.Glu84Ala) variant details
- p.Glu84Ala
- rs777045773
- ClinGen CA5784024
- ClinVar RCV001208083
- ExAC rs777045773
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.30
- MetaLR 0.71
- MetaSVM 0.08
- CADD 17.90
- PolyPhen-2 1.00
- SIFT 0.28
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available