I56V (p.Ile56Val) variant of C5 (Complement C5)
I56V (p.Ile56Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- TOPMed rs1416650386
- gnomAD rs1416650386
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.04
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available