W36R (p.Trp36Arg) variant of FMR1 (Q06787)
W36R (p.Trp36Arg) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W36R (p.Trp36Arg) variant details
- p.Trp36Arg
- gnomAD X-147925541-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.56
- CADD 27.70
- PolyPhen-2 0.78
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.224
- Literature evidence available