V4L (p.Val4Leu) variant of CTNNA1 (Catenin alpha-1)
V4L (p.Val4Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V4L (p.Val4Leu) variant details
- p.Val4Leu
- rs1307799059
- ClinGen CA361477036
- ClinVar RCV001959689
- ClinVar RCV003382760
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.06
- AlphaMissense 0.13
- MetaLR 0.23
- MetaSVM -0.82
- CADD 19.70
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)