D61D (p.Asp61Asp) variant of C3 (Complement C3)
D61D (p.Asp61Asp) in C3 (Complement C3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D61D (p.Asp61Asp) variant details
- p.Asp61Asp
- rs780269222
- gnomAD 19-6677957-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available