E2E (p.Glu2Glu) variant of FMR1 (Q06787)
E2E (p.Glu2Glu) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- gnomAD X-147912185-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0339
- Literature evidence available