C634F (p.Cys634Phe) variant of RET (P07949)
C634F (p.Cys634Phe) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C634F (p.Cys634Phe) variant details
- p.Cys634Phe
- rs75996173
- ClinGen CA008370
- cosmic curated COSV60693
- ClinVar RCV000014928
- Pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.91
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Multiple endocrine neoplasia, type 2)
- EBI: Pathogenic (in MEN2A and pheochromocytoma)
- UniProt: Pathogenic (in MEN2A and pheochromocytoma)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. (PMID 3078962)