G90S (p.Gly90Ser) variant of IRF7 (Interferon regulatory factor 7)
G90S (p.Gly90Ser) 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 0.35 / 1. The record also includes population frequency data and structural context.
G90S (p.Gly90Ser) variant details
- p.Gly90Ser
- rs768959432
- ClinGen CA5784015
- cosmic curated COSV52756
- ClinVar RCV002589028
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.16
- MetaLR 0.56
- MetaSVM -0.12
- CADD 7.75
- PolyPhen-2 0.59
- SIFT 0.27
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available