E167K (p.Glu167Lys) variant of C5 (Complement C5)
E167K (p.Glu167Lys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E167K (p.Glu167Lys) variant details
- p.Glu167Lys
- gnomAD rs1276801868
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.50
- CADD 24.50
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available