D7E (p.Asp7Glu) variant of APC (Adenomatous polyposis coli protein)
D7E (p.Asp7Glu) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes structural context.
D7E (p.Asp7Glu) variant details
- p.Asp7Glu
- Ensembl rs2149737434
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- ESM-1b 0.00
- AlphaMissense 0.75
- EBI: Benign
- UniProt: Benign
- Structural context available