A18T (p.Ala18Thr) variant of FMR1 (Q06787)
A18T (p.Ala18Thr) 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.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- gnomAD X-147921933-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.33
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.174
- Literature evidence available