F32L (p.Phe32Leu) variant of FMR1 (Q06787)
F32L (p.Phe32Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F32L (p.Phe32Leu) variant details
- p.Phe32Leu
- gnomAD X-147921975-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.53
- CADD 25.90
- PolyPhen-2 0.56
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.484
- Literature evidence available