A15T (p.Ala15Thr) variant of APC (Adenomatous polyposis coli protein)
A15T (p.Ala15Thr) 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 Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- cosmic curated COSV10723
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.64
- MetaSVM 0.36
- CADD 23.40
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available