P7L (p.Pro7Leu) variant of C3 (Complement C3)
P7L (p.Pro7Leu) 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 with C3 anomaly; Age related macular degenera. The record also includes structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- NCI-TCGA Cosmic COSV5556
- Uncertain significance
- Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera
- Missense
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome with C3 anomaly; Age related)
- UniProt: Uncertain significance
- Structural context available