E40K (p.Glu40Lys) variant of C3 (Complement C3)
E40K (p.Glu40Lys) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- ExAC rs749382784
- gnomAD rs749382784
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.71
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available