P47L (p.Pro47Leu) variant of CTNNA1 (Catenin alpha-1)
P47L (p.Pro47Leu) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- rs757666042
- ClinGen CA3431365
- cosmic curated COSV10513
- ClinVar RCV002389465
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.37
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.01
- 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 1.8e-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)