D29Y (p.Asp29Tyr) variant of APC (Adenomatous polyposis coli protein)
D29Y (p.Asp29Tyr) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- rs1195191600
- ClinGen CA16021525
- ClinVar RCV004564569
- TOPMed rs1195191600
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.64
- MetaLR 0.15
- MetaSVM -0.91
- CADD 29.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- 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)