I11V (p.Ile11Val) variant of C5 (Complement C5)
I11V (p.Ile11Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- ExAC rs760686825
- TOPMed rs760686825
- gnomAD rs760686825
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.03
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.52
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available