S11T (p.Ser11Thr) variant of FMR1 (Q06787)
S11T (p.Ser11Thr) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S11T (p.Ser11Thr) variant details
- p.Ser11Thr
- gnomAD X-147912210-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.11
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.373
- Literature evidence available