Q50E (p.Gln50Glu) variant of C3 (Complement C3)
Q50E (p.Gln50Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
Q50E (p.Gln50Glu) variant details
- p.Gln50Glu
- rs780548430
- ClinGen CA9129887
- ClinVar RCV003841417
- ExAC rs780548430
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0625
- REVEL 0.06
- CADD 0.01
- PolyPhen-2 0.03
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available