E7* (p.Glu7Ter) variant of FMR1 (Q06787)
E7* (p.Glu7Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- gnomAD rs1557174005
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 39.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.197