T29I (p.Thr29Ile) variant of FMR1 (Q06787)
T29I (p.Thr29Ile) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- gnomAD X-147921967-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- CADD 27.30
- PolyPhen-2 0.84
- SIFT 0.04
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.469
- Literature evidence available