L9V (p.Leu9Val) variant of APC (Adenomatous polyposis coli protein)
L9V (p.Leu9Val) in APC (Adenomatous polyposis coli protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial adenomatous polyposis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
L9V (p.Leu9Val) variant details
- p.Leu9Val
- Ensembl rs2149737483
- Uncertain significance
- Familial adenomatous polyposis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- ESM-1b 0.54
- AlphaMissense 0.91
- MetaLR 0.12
- MetaSVM -0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1)
- UniProt: Uncertain significance
- Structural context available