G168R (p.Gly168Arg) variant of C5 (Complement C5)
G168R (p.Gly168Arg) in C5 (Complement C5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
G168R (p.Gly168Arg) variant details
- p.Gly168Arg
- ExAC rs775182736
- gnomAD rs775182736
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.62
- MetaLR 0.66
- MetaSVM 0.28
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 9.1e-05)
- Structural context available