E7Q (p.Glu7Gln) variant of FMR1 (Q06787)
E7Q (p.Glu7Gln) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7Q (p.Glu7Gln) variant details
- p.Glu7Gln
- gnomAD X-147912198-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.197
- Literature evidence available