F127L (p.Phe127Leu) variant of C5 (Complement C5)
F127L (p.Phe127Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F127L (p.Phe127Leu) variant details
- p.Phe127Leu
- ExAC rs767957532
- TOPMed rs767957532
- gnomAD rs767957532
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.78
- MetaLR 0.59
- MetaSVM 0.18
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available