N8S (p.Asn8Ser) variant of CTNNA1 (Catenin alpha-1)
N8S (p.Asn8Ser) 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 0.39 / 1. The record also includes published literature and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- rs1580978002
- ClinGen CA361477064
- ClinVar RCV000812215
- ClinVar RCV004028762
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.07
- MetaLR 0.45
- MetaSVM -0.32
- PolyPhen-2 0.06
- SIFT 0.34
- EVE 0.09
- ClinVar: Uncertain significance (not provided; 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)