N49K (p.Asn49Lys) variant of CTNNA1 (Catenin alpha-1)
N49K (p.Asn49Lys) 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 0.28 / 1. The record also includes published literature and structural context.
N49K (p.Asn49Lys) variant details
- p.Asn49Lys
- rs2149656210
- ClinGen CA361477347
- ClinVar RCV001365499
- ClinVar RCV004036945
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- AlphaMissense 0.55
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.00
- SIFT 0.68
- EVE 0.09
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- 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)