Y16H (p.Tyr16His) variant of FMR1 (Q06787)
Y16H (p.Tyr16His) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y16H (p.Tyr16His) variant details
- p.Tyr16His
- gnomAD X-147912225-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.35
- CADD 24.60
- PolyPhen-2 0.04
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.381
- Literature evidence available