G20R (p.Gly20Arg) variant of IRF7 (Interferon regulatory factor 7)
G20R (p.Gly20Arg) 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 0.56 / 1. The record also includes population frequency data and structural context.
G20R (p.Gly20Arg) variant details
- p.Gly20Arg
- rs371777089
- ClinGen CA5784105
- cosmic curated COSV10727
- ClinVar RCV003845533
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- AlphaMissense 0.21
- MetaLR 0.86
- MetaSVM 0.42
- CADD 8.20
- PolyPhen-2 1.00
- SIFT 0.75
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available