I164K (p.Ile164Lys) variant of C5 (Complement C5)
I164K (p.Ile164Lys) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I164K (p.Ile164Lys) variant details
- p.Ile164Lys
- Ensembl rs2047542288
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.90
- CADD 21.20
- PolyPhen-2 0.08
- SIFT 0.25
- Population evidence available
- Structural context available