L9P (p.Leu9Pro) variant of C3 (Complement C3)
L9P (p.Leu9Pro) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs138214338
- ClinGen CA9129927
- ClinVar RCV001092937
- ClinVar RCV001133672
- Conflicting interpretations
- Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 a
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.54
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Age related macular degeneration 9; Atypical hemolytic-uremic sy)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.001)
- 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)