R24P (p.Arg24Pro) variant of APC (Adenomatous polyposis coli protein)
R24P (p.Arg24Pro) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
R24P (p.Arg24Pro) variant details
- p.Arg24Pro
- gnomAD rs878853469
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.15
- MetaSVM -0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available