G76R (p.Gly76Arg) variant of IRF7 (Interferon regulatory factor 7)
G76R (p.Gly76Arg) 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 0.31 / 1. The record also includes population frequency data and structural context.
G76R (p.Gly76Arg) variant details
- p.Gly76Arg
- rs750277291
- ClinGen CA5784034
- ClinVar RCV001976156
- ExAC rs750277291
- Uncertain significance
- Immunodeficiency 39
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.19
- MetaLR 0.71
- MetaSVM 0.04
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Immunodeficiency 39)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available