P137L (p.Pro137Leu) variant of C5 (Complement C5)
P137L (p.Pro137Leu) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P137L (p.Pro137Leu) variant details
- p.Pro137Leu
- ExAC rs765066896
- TOPMed rs765066896
- gnomAD rs765066896
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- MetaLR 0.84
- MetaSVM 0.85
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available