V120L (p.Val120Leu) variant of C3 (Complement C3)
V120L (p.Val120Leu) in C3 (Complement C3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V120L (p.Val120Leu) variant details
- p.Val120Leu
- Ensembl rs1968087337
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.14
- CADD 13.30
- PolyPhen-2 0.38
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available