E170K (p.Glu170Lys) variant of C5 (Complement C5)
E170K (p.Glu170Lys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E170K (p.Glu170Lys) variant details
- p.Glu170Lys
- gnomAD rs1447436742
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.89
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available