I128V (p.Ile128Val) variant of C5 (Complement C5)
I128V (p.Ile128Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I128V (p.Ile128Val) variant details
- p.Ile128Val
- ExAC rs760145865
- gnomAD rs760145865
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.18
- MetaLR 0.24
- MetaSVM -0.71
- CADD 20.40
- PolyPhen-2 0.50
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available