E25* (p.Glu25Ter) variant of FMR1 (Q06787)
E25* (p.Glu25Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E25* (p.Glu25Ter) variant details
- p.Glu25Ter
- gnomAD X-147921954-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.693
- CADD 41.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.28
- Literature evidence available