C515Y (p.Cys515Tyr) variant of RET (P07949)
C515Y (p.Cys515Tyr) 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 0.74 / 1. The record also includes population frequency data and structural context.
C515Y (p.Cys515Tyr) variant details
- p.Cys515Tyr
- gnomAD rs1468917724
- Uncertain significance
- Multiple endocrine neoplasia, type 2; MEN2 phenotype: Unclassified; Hereditary c
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.72
- MetaLR 0.96
- MetaSVM 1.09
- CADD 23.70
- PolyPhen-2 0.76
- SIFT 0.21
- 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