R9Q (p.Arg9Gln) variant of FMR1 (Q06787)
R9Q (p.Arg9Gln) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- gnomAD X-147912205-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.23
- CADD 24.70
- PolyPhen-2 0.40
- SIFT 0.04
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.327
- Literature evidence available