G97D (p.Gly97Asp) variant of FH (P07954)
G97D (p.Gly97Asp) in FH (P07954) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hereditary leiomyomatosis and renal cell cancer. The record also includes structural context.
G97D (p.Gly97Asp) variant details
- p.Gly97Asp
- Ensembl rs2147923073
- Likely pathogenic
- Hereditary leiomyomatosis and renal cell cancer
- Missense
- ClinVar: Likely pathogenic (Hereditary leiomyomatosis and renal cell cancer)
- UniProt: Likely pathogenic
- Structural context available