A92D (p.Ala92Asp) variant of C3 (Complement C3)
A92D (p.Ala92Asp) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A92D (p.Ala92Asp) variant details
- p.Ala92Asp
- gnomAD rs1968089624
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- CADD 19.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available