Q139E (p.Gln139Glu) variant of C5 (Complement C5)
Q139E (p.Gln139Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q139E (p.Gln139Glu) variant details
- p.Gln139Glu
- gnomAD rs761781837
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.37
- MetaLR 0.44
- MetaSVM -0.10
- CADD 23.90
- PolyPhen-2 0.67
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available