K104E (p.Lys104Glu) variant of C3 (Complement C3)
K104E (p.Lys104Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K104E (p.Lys104Glu) variant details
- p.Lys104Glu
- rs1968088189
- ClinGen CA403645284
- ClinVar RCV003064538
- ClinVar RCV005863795
- Uncertain significance
- Atypical hemolytic-uremic syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.17
- CADD 18.00
- PolyPhen-2 0.15
- SIFT 0.14
- ClinVar: Uncertain significance (Atypical hemolytic-uremic syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)