W36* (p.Trp36Ter) variant of FMR1 (Q06787)
W36* (p.Trp36Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W36* (p.Trp36Ter) variant details
- p.Trp36Ter
- gnomAD X-147912732-G-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 16.50
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.224
- Literature evidence available