V804M (p.Val804Met) variant of RET (P07949)
V804M (p.Val804Met) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Multiple endocrine neoplasia type 2A; Familial medullary thyroid carcinoma; Mult. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V804M (p.Val804Met) variant details
- p.Val804Met
- rs79658334
- ClinGen CA008751
- cosmic curated COSV60710
- ClinVar RCV000014972
- Pathogenic
- Multiple endocrine neoplasia type 2A; Familial medullary thyroid carcinoma; Mult
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.72
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Multiple endocrine neoplasia type 2A)
- EBI: Pathogenic (in MTC)
- UniProt: Pathogenic (in MTC)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A RET double mutation in the germline of a kindred with FMTC. (PMID 10826520)
- Cited in: Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. (PMID 11788682)