C634R (p.Cys634Arg) variant of RET (P07949)
C634R (p.Cys634Arg) 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; Thyroid gland carcinoma; Multiple endoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C634R (p.Cys634Arg) variant details
- p.Cys634Arg
- rs75076352
- ClinGen CA008315
- NCI-TCGA Cosmic COSV6068
- Pathogenic
- Hereditary cancer-predisposing syndrome; Thyroid gland carcinoma; Multiple endoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.97
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Multiple endocrine neoplasia, type 2)
- EBI: Pathogenic (in MEN2A, pheochromocytoma and MTC)
- UniProt: Pathogenic (in MEN2A, pheochromocytoma and MTC)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. (PMID 10522989)
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)