G23D (p.Gly23Asp) variant of RET (P07949)
G23D (p.Gly23Asp) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G23D (p.Gly23Asp) variant details
- p.Gly23Asp
- rs1554815546
- ClinGen CA376768119
- ClinVar RCV000563458
- ClinVar RCV001047359
- Uncertain significance
- Multiple endocrine neoplasia, type 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.46
- MetaLR 0.93
- MetaSVM 0.80
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.36
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)