I119V (p.Ile119Val) variant of C5 (Complement C5)
I119V (p.Ile119Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
I119V (p.Ile119Val) variant details
- p.Ile119Val
- ExAC rs764365113
- gnomAD rs764365113
- Missense
- Variant Prioritization Score for Impact Estimate 0.0671
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.00
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available