P24H (p.Pro24His) variant of C3 (Complement C3)
P24H (p.Pro24His) in C3 (Complement C3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P24H (p.Pro24His) variant details
- p.Pro24His
- 1000Genomes rs201572119
- ExAC rs201572119
- TOPMed rs201572119
- gnomAD rs201572119
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.51
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available