D7Y (p.Asp7Tyr) variant of APC (Adenomatous polyposis coli protein)
D7Y (p.Asp7Tyr) in APC (Adenomatous polyposis coli protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D7Y (p.Asp7Tyr) variant details
- p.Asp7Tyr
- Ensembl rs2149737402
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.45
- ESM-1b 0.81
- AlphaMissense 0.96
- MetaLR 0.14
- MetaSVM -0.92
- CADD 29.30
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available