N32I (p.Asn32Ile) variant of APC (Adenomatous polyposis coli protein)
N32I (p.Asn32Ile) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
N32I (p.Asn32Ile) variant details
- p.Asn32Ile
- rs539108537
- ClinGen CA16021548
- ClinVar RCV004563028
- 1000Genomes rs539108537
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.51
- MetaSVM 0.09
- CADD 25.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)