S55A (p.Ser55Ala) variant of CTNNA1 (Catenin alpha-1)
S55A (p.Ser55Ala) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S55A (p.Ser55Ala) variant details
- p.Ser55Ala
- rs1755329623
- ClinGen CA361477382
- ClinVar RCV001308360
- ClinVar RCV004034167
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- AlphaMissense 0.89
- MetaLR 0.18
- MetaSVM -0.88
- CADD 26.30
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)