V143L (p.Val143Leu) variant of C5 (Complement C5)
V143L (p.Val143Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V143L (p.Val143Leu) variant details
- p.Val143Leu
- 1000Genomes rs578177442
- ExAC rs578177442
- gnomAD rs578177442
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.14
- MetaLR 0.29
- MetaSVM -0.57
- CADD 20.80
- PolyPhen-2 0.26
- SIFT 0.05
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available