L4P (p.Leu4Pro) variant of FMR1 (Q06787)
L4P (p.Leu4Pro) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD X-147912190-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.44
- CADD 28.90
- 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