N20D (p.Asn20Asp) variant of APC (Adenomatous polyposis coli protein)
N20D (p.Asn20Asp) 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 population frequency data, published literature, and structural context.
N20D (p.Asn20Asp) variant details
- p.Asn20Asp
- rs760591046
- ClinGen CA043346
- ClinVar RCV004522927
- ExAC rs760591046
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.14
- MetaSVM -0.92
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)