L4M (p.Leu4Met) variant of FMR1 (Q06787)
L4M (p.Leu4Met) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- gnomAD X-147912189-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.17
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.534
- Literature evidence available