K16T (p.Lys16Thr) variant of CTNNA1 (Catenin alpha-1)
K16T (p.Lys16Thr) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- rs1276738001
- ClinGen CA361477121
- ClinVar RCV001224631
- ClinVar RCV002339602
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.43
- AlphaMissense 0.79
- MetaLR 0.57
- MetaSVM 0.12
- CADD 27.10
- PolyPhen-2 1.00
- 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)