I20V (p.Ile20Val) variant of CTNNA1 (Catenin alpha-1)
I20V (p.Ile20Val) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
I20V (p.Ile20Val) variant details
- p.Ile20Val
- rs1561520304
- ClinGen CA361477146
- ClinVar RCV002959170
- ClinVar RCV003170742
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.34
- SIFT 0.25
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)