L10V (p.Leu10Val) variant of APC (Adenomatous polyposis coli protein)
L10V (p.Leu10Val) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- Ensembl rs2149737524
- Uncertain significance
- Familial adenomatous polyposis 1; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- ESM-1b 0.00
- AlphaMissense 0.40
- MetaLR 0.04
- MetaSVM -1.05
- SIFT 1.00
- ClinVar: Uncertain significance (Familial adenomatous polyposis 1; Hereditary cancer-predisposing)
- UniProt: Uncertain significance
- Structural context available