I54L (p.Ile54Leu) variant of C5 (Complement C5)
I54L (p.Ile54Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I54L (p.Ile54Leu) variant details
- p.Ile54Leu
- gnomAD rs1378081576
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -0.99
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available