R40* (p.Arg40Ter) variant of FMR1 (Q06787)
R40* (p.Arg40Ter) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- gnomAD X-147912761-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 13.20
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.61
- Literature evidence available