D61E (p.Asp61Glu) variant of C3 (Complement C3)
D61E (p.Asp61Glu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D61E (p.Asp61Glu) variant details
- p.Asp61Glu
- TOPMed rs947639403
- gnomAD rs947639403
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.46
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.03
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available