A24V (p.Ala24Val) variant of CTNNA1 (Catenin alpha-1)
A24V (p.Ala24Val) 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 0.31 / 1. The record also includes published literature and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- rs1755163589
- ClinGen CA361477175
- ClinVar RCV001370783
- ClinVar RCV004037480
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- AlphaMissense 0.94
- MetaLR 0.11
- MetaSVM -1.00
- PolyPhen-2 0.72
- SIFT 0.00
- EVE 0.18
- 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)