L18V (p.Leu18Val) variant of CTNNA1 (Catenin alpha-1)
L18V (p.Leu18Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1755160879
- ClinGen CA361477135
- ClinVar RCV001220886
- ClinVar RCV002348738
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-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)