C216Y (p.Cys216Tyr) variant of RET (P07949)
C216Y (p.Cys216Tyr) 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; MEN2 phenotype: Unclassified; Hereditary c. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C216Y (p.Cys216Tyr) variant details
- p.Cys216Tyr
- rs2132703203
- ClinGen CA376544347
- ClinVar RCV003833216
- ClinVar RCV004573350
- Uncertain significance
- Multiple endocrine neoplasia, type 2; MEN2 phenotype: Unclassified; Hereditary c
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.07
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Multiple endocrine neoplasia, type 2; Hereditary cancer-predispo)
- 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)
- Cited in: Guidelines for diagnosis and therapy of MEN type 1 and type 2. (PMID 11739416)