N32S (p.Asn32Ser) variant of APC (Adenomatous polyposis coli protein)
N32S (p.Asn32Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- rs539108537
- ClinGen CA051346
- cosmic curated COSV57336
- ClinVar RCV000202147
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.66
- CADD 17.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- 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)