F19F (p.Phe19Phe) variant of FMR1 (Q06787)
F19F (p.Phe19Phe) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F19F (p.Phe19Phe) variant details
- p.Phe19Phe
- gnomAD X-147912739-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.154
- CADD 10.40
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.337
- Literature evidence available