V108M (p.Val108Met) variant of C3 (Complement C3)
V108M (p.Val108Met) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V108M (p.Val108Met) variant details
- p.Val108Met
- rs747923416
- ClinGen CA9129844
- ClinVar RCV001029992
- ClinVar RCV005021339
- Uncertain significance
- Atypical hemolytic-uremic syndrome with C3 anomaly; Age related macular degenera
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.17
- CADD 21.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome with C3 anomaly; Age related)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- 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)