Q88R (p.Gln88Arg) variant of C5 (Complement C5)
Q88R (p.Gln88Arg) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Q88R (p.Gln88Arg) variant details
- p.Gln88Arg
- ExAC rs772633842
- TOPMed rs772633842
- gnomAD rs772633842
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -0.89
- CADD 22.70
- PolyPhen-2 0.58
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available