V57L (p.Val57Leu) variant of C3 (Complement C3)
V57L (p.Val57Leu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V57L (p.Val57Leu) variant details
- p.Val57Leu
- gnomAD rs1477487433
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.07
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available