A18E (p.Ala18Glu) variant of FMR1 (Q06787)
A18E (p.Ala18Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- gnomAD X-147921934-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.33
- CADD 26.60
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.174
- Literature evidence available