P47S (p.Pro47Ser) variant of CTNNA1 (Catenin alpha-1)
P47S (p.Pro47Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- rs2149656154
- ClinGen CA361477329
- cosmic curated COSV10459
- ClinVar RCV002389205
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.59
- MetaLR 0.11
- MetaSVM -1.05
- PolyPhen-2 0.17
- SIFT 0.15
- EVE 0.49
- ClinVar: Uncertain significance (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)