N32Y (p.Asn32Tyr) variant of APC (Adenomatous polyposis coli protein)
N32Y (p.Asn32Tyr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N32Y (p.Asn32Tyr) variant details
- p.Asn32Tyr
- rs587781972
- ClinGen CA16021546
- ClinVar RCV000562593
- ClinVar RCV004569186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.54
- MetaSVM 0.27
- CADD 26.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)