R40R (p.Arg40Arg) variant of FMR1 (Q06787)
R40R (p.Arg40Arg) in FMR1 (Q06787) is a synonymous 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.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- gnomAD X-147912761-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.346
- CADD 12.70
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.61
- Literature evidence available