I20F (p.Ile20Phe) variant of CTNNA1 (Catenin alpha-1)
I20F (p.Ile20Phe) 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 Retinal dystrophy; Hereditary cancer-predisposing syndrome; not provided. 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.
I20F (p.Ile20Phe) variant details
- p.Ile20Phe
- rs1561520304
- ClinGen CA361477147
- ClinVar RCV000823543
- ClinVar RCV001075593
- Uncertain significance
- Retinal dystrophy; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.46
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Retinal dystrophy; Hereditary cancer-predisposing syndrome; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-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)