V86L (p.Val86Leu) variant of C3 (Complement C3)
V86L (p.Val86Leu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
V86L (p.Val86Leu) variant details
- p.Val86Leu
- ExAC rs763113592
- TOPMed rs763113592
- gnomAD rs763113592
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.08
- CADD 3.21
- PolyPhen-2 0.11
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available