D29E (p.Asp29Glu) variant of APC (Adenomatous polyposis coli protein)
D29E (p.Asp29Glu) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
D29E (p.Asp29Glu) variant details
- p.Asp29Glu
- rs1561444926
- ClinGen CA16021530
- ClinVar RCV004564318
- Ensembl rs1561444926
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.61
- MetaLR 0.12
- MetaSVM -0.97
- CADD 25.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)