K12R (p.Lys12Arg) variant of CTNNA1 (Catenin alpha-1)
K12R (p.Lys12Arg) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K12R (p.Lys12Arg) variant details
- p.Lys12Arg
- rs1580978035
- ClinGen CA361477094
- ClinVar RCV001883302
- ClinVar RCV002458701
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.18
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)