E3E (p.Glu3Glu) variant of FMR1 (Q06787)
E3E (p.Glu3Glu) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E3E (p.Glu3Glu) variant details
- p.Glu3Glu
- gnomAD X-147912188-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 14.20
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.0449
- Literature evidence available