Y16* (p.Tyr16Ter) variant of FMR1 (Q06787)
Y16* (p.Tyr16Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- gnomAD X-147912227-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.573
- CADD 36.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.381
- Literature evidence available