N20Y (p.Asn20Tyr) variant of APC (Adenomatous polyposis coli protein)
N20Y (p.Asn20Tyr) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
N20Y (p.Asn20Tyr) variant details
- p.Asn20Tyr
- cosmic curated COSV10456
- ExAC rs760591046
- gnomAD rs760591046
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.14
- MetaSVM -0.92
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available