A14T (p.Ala14Thr) variant of FMR1 (Q06787)
A14T (p.Ala14Thr) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- gnomAD X-147912219-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.20
- CADD 25.10
- PolyPhen-2 0.42
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.218
- Literature evidence available