H24Y (p.His24Tyr) variant of FMR1 (Q06787)
H24Y (p.His24Tyr) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- gnomAD X-147921951-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.19
- CADD 23.80
- PolyPhen-2 0.51
- SIFT 0.11
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.106
- Literature evidence available