S27F (p.Ser27Phe) variant of FMR1 (Q06787)
S27F (p.Ser27Phe) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- rs2042656553
- gnomAD X-147912756-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 12.30
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.593
- Literature evidence available