E355V (p.Glu355Val) variant of FH (P07954)
E355V (p.Glu355Val) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary leiomyomatosis and renal cell cancer. The record also includes published literature and structural context.
E355V (p.Glu355Val) variant details
- p.Glu355Val
- rs2527319221
- ClinGen CA345438082
- ClinVar RCV002466957
- Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer
- Missense
- ClinVar: Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)
- Cited in: Canadian guideline on genetic screening for hereditary renal cell cancers. (PMID 24319509)