V86F (p.Val86Phe) variant of C3 (Complement C3)
V86F (p.Val86Phe) in C3 (Complement C3) 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.
V86F (p.Val86Phe) variant details
- p.Val86Phe
- ExAC rs763113592
- TOPMed rs763113592
- gnomAD rs763113592
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.13
- CADD 10.80
- PolyPhen-2 0.62
- SIFT 0.36
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available