Q88P (p.Gln88Pro) variant of C5 (Complement C5)
Q88P (p.Gln88Pro) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q88P (p.Gln88Pro) variant details
- p.Gln88Pro
- ExAC rs772633842
- TOPMed rs772633842
- gnomAD rs772633842
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.09
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available