E25D (p.Glu25Asp) variant of FMR1 (Q06787)
E25D (p.Glu25Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E25D (p.Glu25Asp) variant details
- p.Glu25Asp
- gnomAD X-147921956-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.10
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.51
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.28
- Literature evidence available