H129R (p.His129Arg) variant of C5 (Complement C5)
H129R (p.His129Arg) in C5 (Complement C5) 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 0.42 / 1. The record also includes population frequency data and structural context.
H129R (p.His129Arg) variant details
- p.His129Arg
- ExAC rs774850483
- TOPMed rs774850483
- gnomAD rs774850483
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.44
- MetaLR 0.28
- MetaSVM -0.44
- CADD 22.20
- PolyPhen-2 0.25
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available