G25S (p.Gly25Ser) variant of IRF7 (Interferon regulatory factor 7)
G25S (p.Gly25Ser) 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 0.64 / 1. The record also includes population frequency data and structural context.
G25S (p.Gly25Ser) variant details
- p.Gly25Ser
- rs756244722
- ClinGen CA5784102
- ClinVar RCV002833483
- ExAC rs756244722
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.36
- MetaLR 0.96
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available