V13D (p.Val13Asp) variant of APC (Adenomatous polyposis coli protein)
V13D (p.Val13Asp) 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 1.00 / 1. The record also includes structural context.
V13D (p.Val13Asp) variant details
- p.Val13Asp
- Ensembl rs2149737669
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.999
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available