G23R (p.Gly23Arg) variant of RET (P07949)
G23R (p.Gly23Arg) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1198827347
- ClinGen CA376768117
- ClinVar RCV002369484
- gnomAD rs1198827347
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.41
- MetaLR 0.95
- MetaSVM 0.88
- CADD 23.10
- PolyPhen-2 0.64
- SIFT 0.47
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)