A83S (p.Ala83Ser) variant of IRF7 (Interferon regulatory factor 7)
A83S (p.Ala83Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
A83S (p.Ala83Ser) variant details
- p.Ala83Ser
- rs759798143
- ClinGen CA5784025
- ClinVar RCV001368112
- ClinVar RCV004037034
- Uncertain significance
- Immunodeficiency 39; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.12
- MetaLR 0.74
- MetaSVM 0.04
- CADD 7.76
- PolyPhen-2 0.74
- SIFT 0.37
- ClinVar: Uncertain significance (Immunodeficiency 39; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available