L23Q (p.Leu23Gln) variant of CTNNA1 (Catenin alpha-1)
L23Q (p.Leu23Gln) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L23Q (p.Leu23Gln) variant details
- p.Leu23Gln
- rs762931250
- ClinGen CA3431333
- ClinVar RCV001362998
- ClinVar RCV002377518
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.34
- AlphaMissense 0.61
- MetaLR 0.16
- MetaSVM -0.97
- CADD 25.00
- PolyPhen-2 0.96
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)