F125V (p.Phe125Val) variant of C5 (Complement C5)
F125V (p.Phe125Val) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F125V (p.Phe125Val) variant details
- p.Phe125Val
- TOPMed rs2047594636
- gnomAD rs2047594636
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.16
- MetaLR 0.15
- MetaSVM -0.86
- CADD 23.40
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available