E95K (p.Glu95Lys) variant of C3 (Complement C3)
E95K (p.Glu95Lys) in C3 (Complement C3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Atypical hemolytic-uremic syndrome with C3 anomaly; Com. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E95K (p.Glu95Lys) variant details
- p.Glu95Lys
- rs746332934
- ClinGen CA9129850
- ClinVar RCV002000946
- ClinVar RCV002497964
- Uncertain significance
- Inborn genetic diseases; Atypical hemolytic-uremic syndrome with C3 anomaly; Com
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- CADD 15.90
- PolyPhen-2 0.10
- SIFT 0.33
- ClinVar: Uncertain significance (Inborn genetic diseases; Atypical hemolytic-uremic syndrome with)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-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)