A3G (p.Ala3Gly) variant of CTNNA1 (Catenin alpha-1)
A3G (p.Ala3Gly) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A3G (p.Ala3Gly) variant details
- p.Ala3Gly
- rs1410904142
- ClinGen CA361477033
- ClinVar RCV001980121
- ClinVar RCV002370596
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 7.5e-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)