V106I (p.Val106Ile) variant of C5 (Complement C5)
V106I (p.Val106Ile) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V106I (p.Val106Ile) variant details
- p.Val106Ile
- ExAC rs746782741
- gnomAD rs746782741
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.03
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available