L39R (p.Leu39Arg) variant of CTNNA1 (Catenin alpha-1)
L39R (p.Leu39Arg) 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 0.58 / 1. The record also includes published literature and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- rs967449848
- ClinGen CA128716553
- ClinVar RCV001055995
- ClinVar RCV003372962
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 1.00
- MetaLR 0.42
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)