Y30C (p.Tyr30Cys) variant of RET (P07949)
Y30C (p.Tyr30Cys) 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; Multiple endocrine neoplasia, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- rs2132656815
- ClinGen CA376770063
- ClinVar RCV001914533
- ClinVar RCV004041123
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.24
- MetaLR 0.73
- MetaSVM 0.58
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.74
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)