I84V (p.Ile84Val) variant of C5 (Complement C5)
I84V (p.Ile84Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
I84V (p.Ile84Val) variant details
- p.Ile84Val
- TOPMed rs1228834948
- Missense
- Variant Prioritization Score for Impact Estimate 0.0773
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.05
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available