E33E (p.Glu33Glu) variant of FMR1 (Q06787)
E33E (p.Glu33Glu) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E33E (p.Glu33Glu) variant details
- p.Glu33Glu
- gnomAD X-147921980-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.305
- CADD 10.10
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.588
- Literature evidence available