R24G (p.Arg24Gly) variant of APC (Adenomatous polyposis coli protein)
R24G (p.Arg24Gly) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- ESP rs145945630
- ExAC rs145945630
- TOPMed rs145945630
- gnomAD rs145945630
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- ESM-1b 0.64
- AlphaMissense 0.98
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available