E6K (p.Glu6Lys) variant of IRF7 (Interferon regulatory factor 7)
E6K (p.Glu6Lys) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- 1000Genomes rs368440136
- ExAC rs368440136
- TOPMed rs368440136
- gnomAD rs368440136
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.30
- MetaLR 0.67
- MetaSVM -0.17
- CADD 9.38
- PolyPhen-2 0.16
- SIFT 0.10
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available