R40Q (p.Arg40Gln) variant of FMR1 (Q06787)
R40Q (p.Arg40Gln) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40Q (p.Arg40Gln) variant details
- p.Arg40Gln
- gnomAD X-147912762-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.16
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.61
- Literature evidence available