R9L (p.Arg9Leu) variant of FMR1 (Q06787)
R9L (p.Arg9Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- gnomAD X-147912205-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.31
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.327
- Literature evidence available