V107L (p.Val107Leu) variant of C5 (Complement C5)
V107L (p.Val107Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V107L (p.Val107Leu) variant details
- p.Val107Leu
- TOPMed rs771897204
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -0.94
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available