F19L (p.Phe19Leu) variant of FMR1 (Q06787)
F19L (p.Phe19Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- gnomAD X-147912737-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 20.30
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.337
- Literature evidence available