F50L (p.Phe50Leu) variant of C5 (Complement C5)
F50L (p.Phe50Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F50L (p.Phe50Leu) variant details
- p.Phe50Leu
- ExAC rs763012703
- TOPMed rs763012703
- gnomAD rs763012703
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.17
- MetaLR 0.06
- MetaSVM -1.07
- CADD 22.90
- PolyPhen-2 0.08
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available