L14R (p.Leu14Arg) variant of FH (P07954)
L14R (p.Leu14Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fumarase deficiency. The record also includes published literature and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- rs2527345537
- ClinGen CA2695200400
- ClinVar RCV003461570
- Uncertain significance
- Fumarase deficiency
- Missense
- ClinVar: Uncertain significance (Fumarase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)