C515F (p.Cys515Phe) variant of RET (P07949)
C515F (p.Cys515Phe) 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; M. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
C515F (p.Cys515Phe) variant details
- p.Cys515Phe
- rs1468917724
- ClinVar RCV004943680
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia, type 2; M
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.72
- MetaLR 0.96
- MetaSVM 1.10
- CADD 24.00
- PolyPhen-2 0.76
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)