E99V (p.Glu99Val) variant of C3 (Complement C3)
E99V (p.Glu99Val) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E99V (p.Glu99Val) variant details
- p.Glu99Val
- TOPMed rs1298387555
- gnomAD rs1298387555
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.06
- CADD 6.47
- PolyPhen-2 0.74
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available