E20A (p.Glu20Ala) variant of C5 (Complement C5)
E20A (p.Glu20Ala) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E20A (p.Glu20Ala) variant details
- p.Glu20Ala
- ExAC rs774697015
- TOPMed rs774697015
- gnomAD rs774697015
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.39
- MetaLR 0.21
- MetaSVM -0.75
- CADD 27.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available