R9G (p.Arg9Gly) variant of FMR1 (Q06787)
R9G (p.Arg9Gly) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- gnomAD X-147912204-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.32
- CADD 32.00
- PolyPhen-2 0.51
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.327
- Literature evidence available