S48A (p.Ser48Ala) variant of CTNNA1 (Catenin alpha-1)
S48A (p.Ser48Ala) 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.
S48A (p.Ser48Ala) variant details
- p.Ser48Ala
- rs1755326643
- ClinGen CA361477336
- ClinVar RCV001973261
- ClinVar RCV003375501
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.76
- MetaLR 0.17
- MetaSVM -0.86
- PolyPhen-2 0.02
- SIFT 0.07
- EVE 0.68
- 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)