R40E (p.Arg40Glu) variant of FMR1 (Q06787)
R40E (p.Arg40Glu) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40E (p.Arg40Glu) variant details
- p.Arg40Glu
- gnomAD X-147912757-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 9.84
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.61
- Literature evidence available