E2* (p.Glu2Ter) variant of FMR1 (Q06787)
E2* (p.Glu2Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD X-147912183-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 38.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0339
- Literature evidence available