C634Y (p.Cys634Tyr) variant of RET (P07949)
C634Y (p.Cys634Tyr) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs. 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.
C634Y (p.Cys634Tyr) variant details
- p.Cys634Tyr
- rs75996173
- ClinGen CA008348
- cosmic curated COSV60688
- ClinVar RCV000014924
- Pathogenic
- Familial medullary thyroid carcinoma; Multiple endocrine neoplasia type 2A; Hirs
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.92
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Familial medullary thyroid carcinoma; Multiple endocrine neoplas)
- EBI: Pathogenic (in MEN2A, pheochromocytoma and MTC)
- UniProt: Pathogenic (in MEN2A, pheochromocytoma and MTC)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)