P15R (p.Pro15Arg) variant of CTNNA1 (Catenin alpha-1)
P15R (p.Pro15Arg) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- rs988942117
- ClinGen CA128716441
- ClinVar RCV001059959
- ClinVar RCV004950212
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.49
- AlphaMissense 0.94
- MetaLR 0.61
- MetaSVM 0.25
- CADD 26.00
- 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 African/African-American population (allele frequency 2.4e-05)
- 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)