G68S (p.Gly68Ser) variant of IRF7 (Interferon regulatory factor 7)
G68S (p.Gly68Ser) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- ExAC rs760049350
- gnomAD rs760049350
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.70
- MetaLR 0.97
- MetaSVM 1.09
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available