E768D (p.Glu768Asp) variant of RET (P07949)
E768D (p.Glu768Asp) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Multiple endocrine neoplasia, type 2; Multiple endocrine neoplasia type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E768D (p.Glu768Asp) variant details
- p.Glu768Asp
- rs78014899
- ClinGen CA008641
- cosmic curated COSV60687
- ClinVar RCV000014956
- Pathogenic/Likely pathogenic
- Multiple endocrine neoplasia, type 2; Multiple endocrine neoplasia type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.71
- CADD 23.60
- PolyPhen-2 0.91
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Multiple endocrine neoplasia, type 2; Multiple endocrine neoplas)
- 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 novel germline point mutation, c.2304 G-->T, in codon 768 of the RET proto-oncogene in a patient with medullary… (PMID 12116277)
- Cited in: RET mutations in exons 13 and 14 of FMTC patients. (PMID 7784092)