I6L (p.Ile6Leu) variant of C5 (Complement C5)
I6L (p.Ile6Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- gnomAD rs1288535175
- Missense
- Variant Prioritization Score for Impact Estimate 0.0957
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.99
- CADD 3.05
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available