V143I (p.Val143Ile) variant of C5 (Complement C5)
V143I (p.Val143Ile) 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.
V143I (p.Val143Ile) variant details
- p.Val143Ile
- 1000Genomes rs578177442
- ExAC rs578177442
- gnomAD rs578177442
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -0.95
- CADD 16.10
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available