E3G (p.Glu3Gly) variant of FMR1 (Q06787)
E3G (p.Glu3Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD X-147912187-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- CADD 26.40
- PolyPhen-2 0.10
- SIFT 0.07
- 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 -0.0449
- Literature evidence available