H24H (p.His24His) variant of FMR1 (Q06787)
H24H (p.His24His) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H24H (p.His24His) variant details
- p.His24His
- rs997885857
- gnomAD X-147912730-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 13.30
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.106
- Literature evidence available