L4R (p.Leu4Arg) variant of FMR1 (Q06787)
L4R (p.Leu4Arg) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- gnomAD X-147912190-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.63
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.534
- Literature evidence available