R161Q (p.Arg161Gln) variant of C3 (Complement C3)
R161Q (p.Arg161Gln) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R161Q (p.Arg161Gln) variant details
- p.Arg161Gln
- Ensembl rs1968081043
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.06
- AlphaMissense 0.08
- MetaLR 0.17
- MetaSVM -0.88
- CADD 18.40
- PolyPhen-2 0.10
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available