K51R (p.Lys51Arg) variant of CTNNA1 (Catenin alpha-1)
K51R (p.Lys51Arg) 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 0.32 / 1. The record also includes published literature and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- rs1755328383
- ClinGen CA361477361
- ClinVar RCV001324820
- ClinVar RCV002402908
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.15
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.02
- SIFT 0.17
- EVE 0.20
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- 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)