G53S (p.Gly53Ser) variant of CTNNA1 (Catenin alpha-1)
G53S (p.Gly53Ser) 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 0.40 / 1. The record also includes published literature and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs1755328949
- ClinGen CA361477371
- ClinVar RCV001237097
- ClinVar RCV002393601
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 1.00
- MetaLR 0.27
- MetaSVM -0.73
- PolyPhen-2 0.21
- SIFT 0.01
- EVE 0.45
- 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)