E66G (p.Glu66Gly) variant of FMR1 (Q06787)
E66G (p.Glu66Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E66G (p.Glu66Gly) variant details
- p.Glu66Gly
- ExAC rs782284934
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.77
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.0353