L4L (p.Leu4Leu) variant of FMR1 (Q06787)
L4L (p.Leu4Leu) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD X-147912189-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.572
- CADD 15.50
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.534
- Literature evidence available