W13G (p.Trp13Gly) variant of CTNNA1 (Catenin alpha-1)
W13G (p.Trp13Gly) 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 0.64 / 1. The record also includes published literature and structural context.
W13G (p.Trp13Gly) variant details
- p.Trp13Gly
- rs1755159708
- ClinGen CA361477100
- ClinVar RCV001937268
- ClinVar RCV003375386
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.95
- MetaLR 0.57
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- 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)