H70R (p.His70Arg) variant of C5 (Complement C5)
H70R (p.His70Arg) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H70R (p.His70Arg) variant details
- p.His70Arg
- TOPMed rs1016043380
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -0.99
- CADD 9.80
- PolyPhen-2 0.00
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available