G14R (p.Gly14Arg) variant of C5 (Complement C5)
G14R (p.Gly14Arg) 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.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- Ensembl rs2131830338
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.06
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available