C609Y (p.Cys609Tyr) variant of RET (P07949)
C609Y (p.Cys609Tyr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C609Y (p.Cys609Tyr) variant details
- p.Cys609Tyr
- rs77939446
- Civic 1260
- ClinGen CA007824
- cosmic curated COSV60708
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 0.95
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary cancer-predisposing syndrome; not provided; Multiple)
- EBI: Pathogenic (in MTC, MEN2A and HSCR1)
- UniProt: Pathogenic (in MTC, MEN2A and HSCR1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis. (PMID 11562352)
- Cited in: Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease. (PMID 7633441)