E2G (p.Glu2Gly) variant of FMR1 (Q06787)
E2G (p.Glu2Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- gnomAD X-147912184-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 0.27
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0339
- Literature evidence available