V804L (p.Val804Leu) variant of RET (P07949)
V804L (p.Val804Leu) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V804L (p.Val804Leu) variant details
- p.Val804Leu
- rs79658334
- ClinGen CA008758
- ClinVar RCV000021853
- ClinVar RCV000426266
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Multiple endocrine neopla
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.71
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Multiple endocrine neoplasia, type 2)
- EBI: Pathogenic (in MTC)
- UniProt: Pathogenic (in MTC)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic… (PMID 11589684)
- Cited in: Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon… (PMID 11932300)