E158G (p.Glu158Gly) variant of C5 (Complement C5)
E158G (p.Glu158Gly) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E158G (p.Glu158Gly) variant details
- p.Glu158Gly
- gnomAD rs1219686903
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.44
- CADD 24.00
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available