D29N (p.Asp29Asn) variant of APC (Adenomatous polyposis coli protein)
D29N (p.Asp29Asn) 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 0.25 / 1. The record also includes structural context.
D29N (p.Asp29Asn) variant details
- p.Asp29Asn
- TOPMed rs1195191600
- gnomAD rs1195191600
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- ESM-1b 0.00
- AlphaMissense 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available