L10M (p.Leu10Met) variant of C3 (Complement C3)
L10M (p.Leu10Met) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- rs756577495
- ClinGen CA9129926
- ClinVar RCV001373123
- ClinVar RCV002294456
- Uncertain significance
- Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.46
- CADD 22.70
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Age related macular degeneration 9; Atypical hemolytic-uremic sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available
- Cited in: Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. (PMID 19821824)
- Cited in: Atypical hemolytic-uremic syndrome. (PMID 19846853)