F32F (p.Phe32Phe) variant of FMR1 (Q06787)
F32F (p.Phe32Phe) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F32F (p.Phe32Phe) variant details
- p.Phe32Phe
- rs1429282550
- gnomAD X-147921977-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 12.60
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.484
- Literature evidence available