D29H (p.Asp29His) variant of APC (Adenomatous polyposis coli protein)
D29H (p.Asp29His) 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 Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
D29H (p.Asp29His) variant details
- p.Asp29His
- TOPMed rs1195191600
- gnomAD rs1195191600
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- ESM-1b 0.00
- AlphaMissense 0.81
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available