S11F (p.Ser11Phe) variant of FMR1 (Q06787)
S11F (p.Ser11Phe) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S11F (p.Ser11Phe) variant details
- p.Ser11Phe
- gnomAD X-147912211-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.17
- CADD 24.40
- PolyPhen-2 0.40
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.373
- Literature evidence available