E35K (p.Glu35Lys) variant of IRF7 (Interferon regulatory factor 7)
E35K (p.Glu35Lys) in IRF7 (Interferon regulatory factor 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- rs757640469
- ClinGen CA5783962
- cosmic curated COSV52752
- ClinVar RCV004355389
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- AlphaMissense 0.09
- MetaLR 0.82
- MetaSVM 0.24
- PolyPhen-2 0.88
- SIFT 0.06
- MutPred 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available