N22S (p.Asn22Ser) variant of APC (Adenomatous polyposis coli protein)
N22S (p.Asn22Ser) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar 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 0.28 / 1. The record also includes population frequency data and structural context.
N22S (p.Asn22Ser) variant details
- p.Asn22Ser
- cosmic curated COSV57374
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.90
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available