E30K (p.Glu30Lys) variant of IFNG (Interferon gamma)
E30K (p.Glu30Lys) in IFNG (Interferon gamma) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- gnomAD 12-68159528-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available