A24S (p.Ala24Ser) variant of CTNNA1 (Catenin alpha-1)
A24S (p.Ala24Ser) 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 0.26 / 1. The record also includes published literature and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- rs1472535447
- ClinGen CA361477172
- ClinVar RCV002367365
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- AlphaMissense 0.60
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.72
- EVE 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)