E40V (p.Glu40Val) variant of C3 (Complement C3)
E40V (p.Glu40Val) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E40V (p.Glu40Val) variant details
- p.Glu40Val
- gnomAD rs1219352295
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.76
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available