E25G (p.Glu25Gly) variant of FMR1 (Q06787)
E25G (p.Glu25Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD X-147912744-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 17.30
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.28
- Literature evidence available