D7V (p.Asp7Val) variant of APC (Adenomatous polyposis coli protein)
D7V (p.Asp7Val) 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 0.37 / 1. The record also includes structural context.
D7V (p.Asp7Val) variant details
- p.Asp7Val
- Ensembl rs1060503296
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.13
- MetaSVM -0.93
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available