I28T (p.Ile28Thr) variant of FMR1 (Q06787)
I28T (p.Ile28Thr) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- gnomAD X-147921964-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.30
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.974
- Literature evidence available