K51N (p.Lys51Asn) variant of CTNNA1 (Catenin alpha-1)
K51N (p.Lys51Asn) 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 not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- rs1755328571
- ClinGen CA361477363
- ClinVar RCV001215374
- ClinVar RCV002402644
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- 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)