Q109H (p.Gln109His) variant of C3 (Complement C3)
Q109H (p.Gln109His) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q109H (p.Gln109His) variant details
- p.Gln109His
- TOPMed rs957152531
- gnomAD rs957152531
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -0.97
- CADD 6.74
- PolyPhen-2 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available