A2T (p.Ala2Thr) variant of APC (Adenomatous polyposis coli protein)
A2T (p.Ala2Thr) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs569523442
- ClinGen CA040361
- ClinVar RCV003770735
- 1000Genomes rs569523442
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.51
- MetaLR 0.62
- MetaSVM 0.43
- CADD 27.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- 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)