D172E (p.Asp172Glu) variant of C5 (Complement C5)
D172E (p.Asp172Glu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D172E (p.Asp172Glu) variant details
- p.Asp172Glu
- ESP rs375608449
- ExAC rs375608449
- TOPMed rs375608449
- gnomAD rs375608449
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -0.97
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available