S48C (p.Ser48Cys) variant of CTNNA1 (Catenin alpha-1)
S48C (p.Ser48Cys) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- rs1580984089
- ClinGen CA361477338
- ClinVar RCV002023409
- ClinVar RCV004046847
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.42
- AlphaMissense 0.55
- MetaLR 0.30
- MetaSVM -0.49
- CADD 26.60
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)