H24R (p.His24Arg) variant of FMR1 (Q06787)
H24R (p.His24Arg) in FMR1 (Q06787) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H24R (p.His24Arg) variant details
- p.His24Arg
- rs2124471879
- ClinGen CA414434444
- ClinVar RCV001758301
- Ensembl rs2124471879
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.45
- CADD 23.50
- PolyPhen-2 0.32
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.106