L4F (p.Leu4Phe) variant of FMR1 (Q06787)
L4F (p.Leu4Phe) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- gnomAD X-147912746-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 18.50
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.534
- Literature evidence available