V57I (p.Val57Ile) variant of C3 (Complement C3)
V57I (p.Val57Ile) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- gnomAD rs1477487433
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.05
- CADD 7.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available