K50R (p.Lys50Arg) variant of CTNNA1 (Catenin alpha-1)
K50R (p.Lys50Arg) 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 0.31 / 1. The record also includes published literature and structural context.
K50R (p.Lys50Arg) variant details
- p.Lys50Arg
- rs1755328184
- ClinGen CA361477352
- ClinVar RCV001314752
- ClinVar RCV003294263
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.15
- SIFT 0.36
- EVE 0.15
- 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)