E158Q (p.Glu158Gln) variant of C5 (Complement C5)
E158Q (p.Glu158Gln) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E158Q (p.Glu158Gln) variant details
- p.Glu158Gln
- gnomAD rs1273071813
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.23
- MetaLR 0.39
- MetaSVM -0.48
- CADD 22.70
- PolyPhen-2 0.89
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available