V59A (p.Val59Ala) variant of C3 (Complement C3)
V59A (p.Val59Ala) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement com. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V59A (p.Val59Ala) variant details
- p.Val59Ala
- rs1568229666
- ClinGen CA403646092
- ClinVar RCV003731047
- ClinVar RCV005014911
- Uncertain significance
- not provided; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement com
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.37
- CADD 24.70
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Atypical hemolytic-uremic syndrome with C3 anomaly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)