I164M (p.Ile164Met) variant of C5 (Complement C5)
I164M (p.Ile164Met) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I164M (p.Ile164Met) variant details
- p.Ile164Met
- ExAC rs753030709
- gnomAD rs753030709
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.25
- MetaLR 0.29
- MetaSVM -0.56
- CADD 22.80
- PolyPhen-2 0.78
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available