L67V (p.Leu67Val) variant of C3 (Complement C3)
L67V (p.Leu67Val) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Atypical hemolytic-uremic syndrome. The record also includes structural context.
L67V (p.Leu67Val) variant details
- p.Leu67Val
- TOPMed rs1968116196
- Uncertain significance
- Atypical hemolytic-uremic syndrome
- Missense
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome)
- UniProt: Uncertain significance
- Structural context available