S44G (p.Ser44Gly) variant of CTNNA1 (Catenin alpha-1)
S44G (p.Ser44Gly) in CTNNA1 (Catenin alpha-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S44G (p.Ser44Gly) variant details
- p.Ser44Gly
- rs1755324870
- ClinGen CA361477309
- ClinVar RCV001034953
- ClinVar RCV005809400
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.3e-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)