A3T (p.Ala3Thr) variant of APC (Adenomatous polyposis coli protein)
A3T (p.Ala3Thr) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs2149737242
- ClinGen CA16021349
- NCI-TCGA Cosmic COSV5734
- cosmic curated COSV57340
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.51
- MetaSVM -0.40
- CADD 7.20
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial adenomatous po)
- 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)