N20T (p.Asn20Thr) variant of APC (Adenomatous polyposis coli protein)
N20T (p.Asn20Thr) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
N20T (p.Asn20Thr) variant details
- p.Asn20Thr
- rs2149737923
- ClinGen CA16021468
- ClinVar RCV004564877
- ClinVar RCV004945833
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.14
- MetaSVM -0.92
- CADD 26.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)