L23V (p.Leu23Val) variant of APC (Adenomatous polyposis coli protein)
L23V (p.Leu23Val) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- rs372367350
- ClinGen CA046202
- ClinVar RCV000575621
- ClinVar RCV001797110
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.23
- ESM-1b 0.69
- AlphaMissense 0.88
- MetaLR 0.20
- MetaSVM -0.75
- CADD 24.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)